FN Thomson Reuters Web of Science™ VR 1.0 PT J AU Parellada, M Boada, L Moreno, C Llorente, C Romo, J Muela, C Arango, C AF Parellada, M. Boada, L. Moreno, C. Llorente, C. Romo, J. Muela, C. Arango, C. TI Specialty Care Programme for autism spectrum disorders in an urban population: A case-management model for health care delivery in an ASD population SO EUROPEAN PSYCHIATRY LA English DT Article DE Autism; Quality of care; Psychiatry in Europe ID ASPERGER-SYNDROME; MENTAL-HEALTH; CHILDREN; SERVICES; ACCESS; ADULTS; DIAGNOSIS; ABNORMALITIES; ADOLESCENTS; PREVALENCE AB Subjects with autism spectrum disorders (ASD) have more medical needs and more difficulties accessing health care services than the general population. Their verbal and non-verbal communication difficulties and particular behaviors, along with lack of expertise on the part of physicians and failure of the services to make adjustments, make it difficult for them to obtain an appropriate health care. Purpose: To describe a model for health care delivery in an ASD population. Method: Review of relevant literature and a discussion process with stakeholders leading to the design of a service to meet the specialty health needs of subjects of all ages with ASD for a region with a population of 6,000,000. Results: A service was designed centred around the concepts of case management, individualization, facilitation, accompaniment, continuous training and updating, and quality management. Five hundred and thirteen patients with ASD have been seen over a period of 18 months. The programme generated 1566 psychiatric visits and 1052 visits to other specialties (mainly Nutrition, Stomatology, Neurology, and Gastroenterology) in the same period. Conclusion: Persons with ASD may benefit from adjustments of health care services in order to improve their access to adequate health care at the quality level of the rest of the population. (C) 2011 Elsevier Masson SAS. All rights reserved. C1 [Parellada, M.; Moreno, C.; Arango, C.] Hosp Gen Univ Gregorio Maranon, CIBERSAM, Ctr Invest Biomed Red Salud Mental, Dept Psychiat, Madrid, Spain. [Boada, L.; Llorente, C.; Romo, J.] Hosp Gen Univ Gregorio Maranon, Dept Psychiat, Madrid, Spain. [Muela, C.] Asociac Nuevo Horizonte, Madrid, Spain. RP Parellada, M (reprint author), Hosp Gen Univ Gregorio Maranon, CIBERSAM, Ctr Invest Biomed Red Salud Mental, Dept Psychiat, Madrid, Spain. 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PD FEB PY 2013 VL 28 IS 2 BP 102 EP 109 DI 10.1016/j.eurpsy.2011.06.004 PG 8 WC Psychiatry SC Psychiatry GA 088XK UT WOS:000314871000007 PM 21907549 ER PT J AU Berry, A Borgi, M Francia, N Alleva, E Cirulli, F AF Berry, Alessandra Borgi, Marta Francia, Nadia Alleva, Enrico Cirulli, Francesca TI Use of Assistance and Therapy Dogs for Children with Autism Spectrum Disorders: A Critical Review of the Current Evidence SO JOURNAL OF ALTERNATIVE AND COMPLEMENTARY MEDICINE LA English DT Review ID PERVASIVE DEVELOPMENTAL DISORDERS; SERVICE DOGS; SOCIAL ACKNOWLEDGMENTS; SENSORY ABNORMALITIES; PRESCHOOL-CHILDREN; PARENTING STRESS; YOUNG-CHILDREN; BEHAVIOR; INTERVENTIONS; DISABILITIES AB Background: Autism spectrum disorders (ASD) are characterized by deficits in social reciprocity and communication, and by unusually restricted, repetitive behaviors. Intervention strategies based on the exploitation of the emotional aspects of human-dog relationships hold the potential to overcome the difficulty of subjects with ASD to relate and interact effectively with others, targeting core symptoms of this disorder. Methods: This review summarizes the results of six published studies on the effects of brief interactions with dogs and the effects of introducing dogs in families with a child diagnosed with ASD, with an emphasis on social behaviors and language use. Furthermore, the possible mechanisms responsible for the beneficial effects observed are discussed. Conclusions: Although the studies described here are encouraging, further research with better designs and using larger samples is needed to strengthen translation of such interventions to the clinic. In addition, potential applications of analyzing child-dog interactions are highlighted to screen for early signs of the disorder. C1 [Berry, Alessandra; Borgi, Marta; Francia, Nadia; Alleva, Enrico; Cirulli, Francesca] Ist Super Sanita, Sect Behav Neurosci, Dept Cell Biol & Neurosci, I-00161 Rome, Italy. RP Cirulli, F (reprint author), Ist Super Sanita, Sect Behav Neurosci, Dept Cell Biol & Neurosci, Viale Regina Elena 299, I-00161 Rome, Italy. EM francesca.cirulli@iss.it FU Italian Ministry of Health (Italia-USA) [11US/11]; Istituto Superiore di Sanita; Azienda per i Servizi Sanitari Friuli Occidentale [6] FX Funding for this study was provided by the Italian Ministry of Health (Italia-USA project 11US/11), Istituto Superiore di Sanita (Research project "Effects of dog-assisted therapies on physical and psychological well being in the institutionalized elderly"), and the Azienda per i Servizi Sanitari n. 6 Friuli Occidentale, collaborative project "Validazione di attivita innovative in ambito agricolo finalizzate all'inserimento sociale, riabilitativo e lavorativo di persone diversamente abili." 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Hiscock, Harriet TI Pharmacological and non-pharmacological management of sleep disturbance in children: An Australian Paediatric Research Network survey SO SLEEP MEDICINE LA English DT Article DE Australian Paediatric Research Network; Behavior therapy; Melatonin; Paediatric; Sleep disorders ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; HYPOGONADOTROPIC HYPOGONADISM; BEHAVIORAL INTERVENTIONS; EXOGENOUS MELATONIN; ONSET INSOMNIA; METAANALYSIS; PUBERTY; HEALTH AB Background: Australian paediatricians use a wide variety of practices when managing sleep disturbances in children, including use of melatonin and behavioral strategies. However, practice patterns around the use of strategies, dosing, and how the patient populations managed, are unknown. Results could inform guidelines for the management of child sleep disturbances. Objective: We aimed to document management practices by Australian general paediatricians for paediatric sleep disturbances through an online survey sent to members of the Australian Paediatric Research Network (APRN) who are recruited from the Royal Australasian College of Physicians. Results: 181 (49%) of 373 eligible paediatricians responded, with 101 prescribing melatonin. The most commonly prescribed medications for poor sleep initiation were melatonin (89.1%), clonidine (48%) and antihistamines (29%). Melatonin doses ranged from 0.5 mg to 12 mg and duration of treatment was as long as 200 weeks. Less than half of the paediatricians were aware of any potential melatonin side effects. Most paediatricians (82%) reported using behavioral strategies for sleep disturbances, most commonly anxiety relaxation techniques (75%) for poor sleep initiation and graduated extinction (i.e. "controlled crying", 52%) for disrupted overnight sleep. Conclusions: Australian paediatricians use both pharmacological and non-pharmacological treatments for paediatric sleep disturbances. Melatonin is the most commonly prescribed medication, but wide variation in its prescribing suggests a lack of knowledge of recommended dosages and effectiveness. Given the prevalence and variation in prescribing, there is an urgent need to develop clear guidance for paediatricians managing children with sleep disturbance. (C) 2012 Elsevier B. V. All rights reserved. C1 [Heussler, Helen; Chan, Patrick] Mater Childrens Hosp, Dept Resp & Sleep Med, Brisbane, Qld 4101, Australia. [Heussler, Helen] Mater Med Res Inst, Brisbane, Qld 4101, Australia. [Heussler, Helen] Univ Queensland, Sch Med, Herston, Qld 4006, Australia. [Price, Anna M. H.; Hiscock, Harriet] Royal Childrens Hosp, Ctr Community Child Hlth, Parkville, Vic 3052, Australia. [Price, Anna M. H.; Hiscock, Harriet] Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia. [Waters, Karen] Sydney Childrens Hosp Network, Resp Support Serv, Sydney, NSW 2000, Australia. [Waters, Karen] Univ Sydney, Sydney, NSW 2000, Australia. [Davey, Margot J.] Monash Med Ctr, Melbourne Childrens Sleep Ctr, Clayton, Vic 3168, Australia. [Hiscock, Harriet] Univ Melbourne, Dept Paediat, Carlton, Vic 3053, Australia. RP Price, AMH (reprint author), Royal Childrens Hosp, Ctr Community Child Hlth, Flemington Rd, Parkville, Vic 3052, Australia. 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PD FEB PY 2013 VL 14 IS 2 BP 189 EP 194 DI 10.1016/j.sleep.2012.09.023 PG 6 WC Clinical Neurology SC Neurosciences & Neurology GA 088XQ UT WOS:000314871600013 PM 23245853 ER PT J AU Haworth, CMA Davis, OSP Plomin, R AF Haworth, Claire M. A. Davis, Oliver S. P. Plomin, Robert TI Twins Early Development Study (TEDS): A Genetically Sensitive Investigation of Cognitive and Behavioral Development From Childhood to Young Adulthood SO TWIN RESEARCH AND HUMAN GENETICS LA English DT Article DE Twins Early Development Study; twins; genetics; environment; longitudinal; behavioral genetics ID GENOME-WIDE ASSOCIATION; ANXIETY-RELATED BEHAVIORS; ENVIRONMENTAL-INFLUENCES; LONGITUDINAL TWIN; MIDDLE CHILDHOOD; LANGUAGE-SKILLS; READING-DISABILITY; AUTISM SPECTRUM; ADHD SYMPTOMS; DNA MARKERS AB The Twins Early Development Study (TEDS) is a large longitudinal sample of twins born in England and Wales between 1994 and 1996. The focus of TEDS has been on cognitive and behavioral development, including difficulties in the context of normal development. TEDS began when multiple births were identified from birth records and the families were invited to take part in the study; 16,810 pairs of twins were originally enrolled in TEDS. More than 10,000 of these twin pairs remain enrolled in the study to date. DNA has been collected for more than 7,000 pairs, and genome-wide genotyping data for two million DNA markers are available for 3,500 individuals. The TEDS families have taken part in studies when the twins were aged 2, 3, 4, 7, 8, 9, 10, 12, 14, and 16 years of age. Data collection is currently underway to assess the adult destinations of the twins as they move from school to university and the workplace. Between January 2012 and December 2014, all of the TEDS twins will turn 18, and the study will transition to an adult sample. TEDS represents an outstanding resource for investigating the developmental effects of genes and environments on complex quantitative traits from childhood to young adulthood and beyond. C1 [Haworth, Claire M. A.; Davis, Oliver S. P.; Plomin, Robert] Kings Coll London, Social Genet & Dev Psychiat Ctr, Inst Psychiat, London SE5 8AF, England. RP Haworth, CMA (reprint author), Kings Coll London, Social Genet & Dev Psychiat Ctr, Inst Psychiat, P080,De Crespigny Pk, London SE5 8AF, England. EM Claire.Haworth@kcl.ac.uk RI Haworth, Claire/C-7073-2009; Davis, Oliver/B-9653-2008 OI Davis, Oliver/0000-0002-6448-3684 FU UK Medical Research Council [G9424799, G0500079, G0901245, G19/2]; US National Institutes of Health [HD044454, HD046167, HD059215]; NIH [HD049861]; Wellcome Trust [GR075492, WT084728]; Autism Speaks [4743]; John Templeton Foundation [13575]; British Academy; Sir Henry Wellcome Fellowship [WT088984]; European Research Council Advanced Investigator Award [295366] FX The authors are enormously grateful to the twins, parents, and the twins' teachers who have supported the Twins Early Development Study (TEDS) for the past 18 years. TEDS has also benefited from an exceptionally gifted group of researchers and support staff. The authors would especially like to thank the current TEDS team, including Rachel Ogden, Andrew McMillan, Kathryn Carter, Francesca Lewis, Neil Harvey, Rae Gardner-Kimball, and Louise Webster, for their enduring dedication to the project. TEDS has been continuously supported by the UK Medical Research Council since 1995 (G9424799, G0500079, and now G0901245). The authors' work on environments and academic achievement is also supported by grants from the US National Institutes of Health (HD044454, HD046167, and HD059215). The authors' molecular genetic research has been partly supported by grants from the NIH (HD049861), Wellcome Trust (GR075492, WT084728), Autism Speaks (4743), and John Templeton Foundation (13575). CMAH is supported by a research fellowship from the British Academy; OSPD is supported by a Sir Henry Wellcome Fellowship (WT088984); RP is supported by a research professorship from the UK Medical Research Council (G19/2) and a European Research Council Advanced Investigator Award (295366). 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Hum. Genet. PD FEB PY 2013 VL 16 IS 1 BP 117 EP 125 DI 10.1017/thg.2012.91 PG 9 WC Genetics & Heredity; Obstetrics & Gynecology SC Genetics & Heredity; Obstetrics & Gynecology GA 087YD UT WOS:000314799700017 PM 23110994 ER PT J AU Magnusson, PKE Almqvist, C Rahman, I Ganna, A Viktorin, A Walum, H Halldner, L Lundstrom, S Ullen, F Langstrom, N Larsson, H Nyman, A Gumpert, CH Rastam, M Anckarsater, H Cnattingius, S Johannesson, M Ingelsson, E Klareskog, L de Faire, U Pedersen, NL Lichtenstein, P AF Magnusson, Patrik K. E. Almqvist, Catarina Rahman, Iffat Ganna, Andrea Viktorin, Alexander Walum, Hasse Halldner, Linda Lundstrom, Sebastian Ullen, Fredrik Langstrom, Niklas Larsson, Henrik Nyman, Anastasia Gumpert, Clara Hellner Rastam, Maria Anckarsater, Henrik Cnattingius, Sven Johannesson, Magnus Ingelsson, Erik Klareskog, Lars de Faire, Ulf Pedersen, Nancy L. Lichtenstein, Paul TI The Swedish Twin Registry: Establishment of a Biobank and Other Recent Developments SO TWIN RESEARCH AND HUMAN GENETICS LA English DT Article DE population-based; twin; registry; biobank; Sweden ID BIRTH-WEIGHT; TELEPHONE INTERVIEW; AUTISM-TICS; A-TAC; ASSOCIATION; 3RD-MILLENNIUM; VALIDITY; UNIQUE; CHILD; RISK AB The Swedish Twin Registry (STR) today contains more than 194,000 twins and more than 75,000 pairs have zygosity determined by an intra-pair similarity algorithm, DNA, or by being of opposite sex. Of these, approximately 20,000, 25,000, and 30,000 pairs are monozygotic, same-sex dizygotic, and opposite-sex dizygotic pairs, respectively. Since its establishment in the late 1950s, the STR has been an important epidemiological resource for the study of genetic and environmental influences on a multitude of traits, behaviors, and diseases. Following large investments in the collection of biological specimens in the past 10 years we have now established a Swedish twin biobank with DNA from 45,000 twins and blood serum from 15,000 twins, which effectively has also transformed the registry into a powerful resource for molecular studies. We here describe the main projects within which the new collections of both biological samples as well as phenotypic measures have been collected. Coverage by year of birth, zygosity determination, ethnic heterogeneity, and influences of in vitro fertilization are also described. C1 [Magnusson, Patrik K. E.; Almqvist, Catarina; Rahman, Iffat; Ganna, Andrea; Viktorin, Alexander; Walum, Hasse; Halldner, Linda; Langstrom, Niklas; Larsson, Henrik; Nyman, Anastasia; Ingelsson, Erik; Pedersen, Nancy L.; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden. [Almqvist, Catarina] Dept Womens & Childrens Hlth, Stockholm, Sweden. [Almqvist, Catarina] Astrid Lindgren Childrens Hosp, Stockholm, Sweden. [Halldner, Linda] Karolinska Inst, Ctr Neurodev Disorders KIND, Stockholm, Sweden. [Lundstrom, Sebastian; Anckarsater, Henrik] Univ Gothenburg, CELAM Ctr Eth Law & Mental Hlth, Gothenburg, Sweden. [Lundstrom, Sebastian; Langstrom, Niklas] Swedish Prison & Probat Serv, R&D Unit, Norrkoping, Sweden. [Lundstrom, Sebastian] Univ Gothenburg, Gillberg Neuropsychiat Ctr, Inst Neurosci & Physiol, Gothenburg, Sweden. [Ullen, Fredrik] Karolinska Inst, Dept Neurosci, Stockholm, Sweden. [Gumpert, Clara Hellner] Karolinska Inst, Dept Clin Neurosci, Ctr Psychiat Res & Educ, Stockholm, Sweden. [Rastam, Maria] Lund Univ, Dept Clin Sci, Lund, Sweden. [Cnattingius, Sven] Karolinska Inst, Dept Med, Unit Clin Epidemiol, Stockholm, Sweden. [Johannesson, Magnus] Stockholm Sch Econ, Dept Econ, S-11383 Stockholm, Sweden. [Klareskog, Lars] Karolinska Univ Hosp, Dept Med, Rheumatol Unit, Stockholm, Sweden. [de Faire, Ulf] Karolinska Inst, Inst Environm Med, Div Cardiovasc Epidemiol, S-10401 Stockholm, Sweden. RP Magnusson, PKE (reprint author), Karolinska Inst, Dept Med Epidemiol & Biostat, Box 281, S-17177 Stockholm, Sweden. EM patrik.magnusson@ki.se RI Johannesson, Magnus/E-9680-2011 OI Johannesson, Magnus/0000-0001-8759-6393 FU Ministry for Higher Education; TwinGene; Swedish Research Council [M-2005-1112, 20113060, K2006-71X-14676-04-2, 2008-54x20638-01-3]; GenomEUtwin [EU/QLRT-2001-01254, QLG2-CT-2002-01254]; NIH [DK U01-066134]; Swedish Foundation for Strategic Research (SSF); Heart and Lung foundation [20070481. STOPPA]; Strategic Research Program in Epidemiology at Karolinska Institutet; Swedish Asthma and Allergy Association; Stockholm County Council; Karolinska Institutet; Swedish Council for Working Life and Social Research; Swedish Research Council; Systembolaget; National Board of Forensic Medicine; Swedish Prison and Probation Service; Bank of Sweden Tercentenary Foundation; Soderstrom-Konigska foundation; Karolinska Institutet Center of Neurodevelopmental Disorders (KIND).; Swedish Council for Working Life and Social Research [2004-0174, 2007-0231]; Swedish Cancer Society [4594-B01-01XAC, 4594-B04-04XAB]; European Union [FP6 036894] FX The Ministry for Higher Education financially supports the STR. For the various projects described here financial support has been provided by: TwinGene; the Swedish Research Council (M-2005-1112), GenomEUtwin (EU/QLRT-2001-01254; QLG2-CT-2002-01254), NIH DK U01-066134, The Swedish Foundation for Strategic Research (SSF), the Heart and Lung foundation no. 20070481. STOPPA; the Strategic Research Program in Epidemiology at Karolinska Institutet, the Swedish Research Council (grant number 20113060), the Swedish Asthma and Allergy Association and the regional agreement on medical training and clinical research (ALF) between Stockholm County Council and Karolinska Institutet. CATSS; support was provided by the Swedish Council for Working Life and Social Research, the Swedish Research Council, Systembolaget, the National Board of Forensic Medicine, the Swedish Prison and Probation Service, Bank of Sweden Tercentenary Foundation, the Soderstrom-Konigska foundation, and the Karolinska Institutet Center of Neurodevelopmental Disorders (KIND). BIRTH; supported by the Swedish Council for Working Life and Social Research (2004-0174 and 2007-0231), the Swedish Research Council (K2006-71X-14676-04-2 and 2008-54x20638-01-3), the Swedish Cancer Society (4594-B01-01XAC and 4594-B04-04XAB), and the European Union-funded Network of Excellence Lifespan (FP6 036894). CR Altman D, 2011, EUR UROL, V59, P280, DOI 10.1016/j.eururo.2010.10.028 Anckarsater H, 2011, TWIN RES HUM GENET, V14, P495, DOI 10.1375/twin.14.6.495 Benjamin DJ, 2012, P NATL ACAD SCI USA, V109, P8026, DOI 10.1073/pnas.1120666109 Bergvall N, 2007, CIRCULATION, V115, P2931, DOI 10.1161/CIRCULATIONAHA.107.674812 Cederlof R., 1966, THESIS KAROLINSKA I Cesarini D, 2012, MANAGE SCI, V58, P21, DOI 10.1287/mnsc.1110.1329 EuroQol Group, 1990, HLTH POLICY, V16, P199, DOI DOI 10.1016/0168-8510(90)90421-9 Formann A. 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Hum. Genet. PD FEB PY 2013 VL 16 IS 1 BP 317 EP 329 DI 10.1017/thg.2012.104 PG 13 WC Genetics & Heredity; Obstetrics & Gynecology SC Genetics & Heredity; Obstetrics & Gynecology GA 087YD UT WOS:000314799700048 PM 23137839 ER PT J AU Schmidt, NL Van Hulle, CA Brooker, RJ Meyer, LR Lemery-Chalfant, K Goldsmith, HH AF Schmidt, Nicole L. Van Hulle, Carol A. Brooker, Rebecca J. Meyer, Lauren R. Lemery-Chalfant, Kathryn Goldsmith, H. Hill TI Wisconsin Twin Research: Early Development, Childhood Psychopathology, Autism, and Sensory Over-responsivity SO TWIN RESEARCH AND HUMAN GENETICS LA English DT Article DE twins; longitudinal; emotions; temperament; child psychopathology; autism; sensory ID BRAIN ELECTRICAL-ACTIVITY; ENVIRONMENTAL-INFLUENCES; MIDDLE CHILDHOOD; CHILDREN AB The Wisconsin Twin Research Program comprises multiple longitudinal studies that utilize a panel recruited from statewide birth records for the years 1989 through 2004. Our research foci are the etiology and developmental course of early emotions, temperament, childhood anxiety and impulsivity, autism, sensory over-responsivity, and related topics. A signature feature of this research program is the breadth and depth of assessment during key periods of development. The assessments include extensive home- and laboratory-based behavioral batteries, recorded sibling and caregiver interactions, structured psychiatric interviews with caregivers and adolescents, observer ratings of child behavior, child self-report, cognitive testing, neuroendocrine measures, medical records, dermatoglyphics, genotyping, and neuroimaging. Across the various studies, testing occasions occurred between 3 months and 18 years of age. Data collection for some aspects of the research program has concluded and, for other aspects, longitudinal follow-ups are in progress. C1 [Schmidt, Nicole L.; Van Hulle, Carol A.; Brooker, Rebecca J.; Meyer, Lauren R.; Goldsmith, H. Hill] UW Madison, Madison, WI 53706 USA. [Lemery-Chalfant, Kathryn] Arizona State Univ, Phoenix, AZ USA. RP Goldsmith, HH (reprint author), UW Madison, 328 Psychol Bldg,1202 Johnson St, Madison, WI 53706 USA. EM hhgoldsm@wisc.edu FU National Institute of Mental Health [R01-MH059785, R01-MH069793, R37-MH050560]; Wisconsin Center for Affective Science [P50-MH069315]; Conte Neuroscience Center [P50-MH084051]; Wallace Research Foundation; National Alliance for Autism Research; Eunice Kennedy Shriver National Institute of Child Health and Human Development [P30 HD003352] FX This work was supported by the National Institute of Mental Health (R01-MH059785, R01-MH069793, R37-MH050560), the Wisconsin Center for Affective Science (P50-MH069315), a Conte Neuroscience Center (P50-MH084051), the Wallace Research Foundation, and the National Alliance for Autism Research. Infrastructure support was provided by the Waisman Center via a core grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30 HD003352). The authors owe special gratitude to Wisconsin twins and their families for their research participation. CR Armstrong J. M., 2003, MANUAL MACARTHUR HLT Brooker R., 2012, DEV STRANGER FEAR IN Constantino JN, 2002, SOCIAL RESPONSIVENES Dunn W., 1999, SENSORY PROFILE MANU Goldsmith H. H., 2012, INT M AUT RES TOR CA Goldsmith HH, 2007, TWIN RES HUM GENET, V10, P118, DOI 10.1375/twin.10.1.118 Keuler MM, 2011, J DEV BEHAV PEDIATR, V32, P533, DOI 10.1097/DBP.0b013e3182245c05 Lemery-Chalfant K, 2006, TWIN RES HUM GENET, V9, P1030, DOI 10.1375/183242706779462363 Light SN, 2009, DEV PSYCHOL, V45, P525, DOI 10.1037/a0014576 Light SN, 2009, CHILD DEV, V80, P1210, DOI 10.1111/j.1467-8624.2009.01326.x Locke R. L., 2007, BIENN M SOC RES CHIL Lord C., 2001, AUTISM DIAGNOSTIC OB Rutter M., 2003, SOCIAL COMMUNICATION Schreiber JE, 2006, PSYCHONEUROENDOCRINO, V31, P1131, DOI 10.1016/j.psyneuen.2006.07.005 SchwabStone ME, 1996, J AM ACAD CHILD PSY, V35, P878, DOI 10.1097/00004583-199607000-00013 U.S. Bureau of the Census, 2000, CENS 2000 SUMM FIL 3 Van Hulle C., 2011, J CHILD PSYCHOL PSYC, V53, P64 Van Hulle CA, 2012, HORM BEHAV, V62, P36, DOI 10.1016/j.yhbeh.2012.04.014 Wagner AI, 2009, J DEV BEHAV PEDIATR, V30, P217, DOI 10.1097/DBP.0b013e3181a7ee98 NR 19 TC 3 Z9 3 PU CAMBRIDGE UNIV PRESS PI NEW YORK PA 32 AVENUE OF THE AMERICAS, NEW YORK, NY 10013-2473 USA SN 1832-4274 J9 TWIN RES HUM GENET JI Twin Res. Hum. Genet. PD FEB PY 2013 VL 16 IS 1 BP 376 EP 384 DI 10.1017/thg.2012.105 PG 9 WC Genetics & Heredity; Obstetrics & Gynecology SC Genetics & Heredity; Obstetrics & Gynecology GA 087YD UT WOS:000314799700057 PM 23200241 ER PT J AU Farmer, J Reupert, A AF Farmer, Judy Reupert, Andrea TI Understanding Autism and understanding my child with Autism: An evaluation of a group parent education program in rural Australia SO AUSTRALIAN JOURNAL OF RURAL HEALTH LA English DT Article DE Autism; multi-stranded content; parent education; parent group; rural ID RANDOMIZED CONTROLLED-TRIAL; SPECTRUM DISORDERS; PRESCHOOL-CHILDREN; ASPERGER-SYNDROME; STRESS; INTERVENTIONS AB Objective To describe and evaluate a six-session program provided to parents of children with Autism in rural Australia. The program was designed to improve parent's knowledge and understanding of Autism, improve their confidence in managing their child and decrease parental anxiety. Design A self-constructed questionnaire administered pre- and post-intervention. Setting An early intervention centre in a large town in rural Victoria. Participants Ninety-eight parents (or family members) of young children primarily aged 26 years of age, diagnosed with Autism. Interventions A multi-stranded content' program was offered over six evenings. Ten programs were conducted over six years. Results The pre- versus post-session analysis using a paired t-test on matched person-to-person parental responses (n=92) showed significant increases in parental understanding of Autism and understanding of their own child (P<0.001), and in understanding the communication, sensory, social, learning and behavioural features of Autism (P<0.001). Significant increases in parental confidence and a significant reduction in parental anxiety were also shown (P<0.001). Qualitative data indicated that parents valued learning about the general nature of Autism and sensory processing, and reported feeling less alone. Conclusions The six-week program was successful in terms of its aims. Parent feedback indicated that ongoing parent education sessions at regular intervals would enhance the impact of the program. C1 [Reupert, Andrea] Monash Univ, Fac Educ, Clayton, Vic 3168, Australia. RP Farmer, J (reprint author), 101 Lardner Rd, Drouin, Vic 3818, Australia. EM thegables@dcsi.net.au FU Australian Government Department of Health and Ageing under the PHCRED strategy through Monash University Gippsland FX The writing of this paper was supported in part by the Australian Government Department of Health and Ageing under the PHCRED strategy through Monash University Gippsland. 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J. Rural Health PD FEB PY 2013 VL 21 IS 1 BP 20 EP 27 DI 10.1111/ajr.12004 PG 8 WC Public, Environmental & Occupational Health; Nursing SC Public, Environmental & Occupational Health; Nursing GA 085DM UT WOS:000314593200005 PM 23384133 ER PT J AU Kaga, M AF Kaga, Makiko TI Exploring autism research collaboration between Japan and United States Joint Academic Conference on Autism Spectrum Disorders, December, 2011 Preface SO BRAIN & DEVELOPMENT LA English DT Editorial Material C1 Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Kodaira, Tokyo 1878553, Japan. RP Kaga, M (reprint author), Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, 4-1-1 Ogawa Higashi, Kodaira, Tokyo 1878553, Japan. EM kaga@ncnp.go.jp NR 0 TC 0 Z9 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0387-7604 J9 BRAIN DEV-JPN JI Brain Dev. PD FEB PY 2013 VL 35 IS 2 BP 95 EP 95 DI 10.1016/j.braindev.2012.09.005 PG 1 WC Clinical Neurology SC Neurosciences & Neurology GA 086GZ UT WOS:000314673400001 PM 23107149 ER PT J AU Senju, A AF Senju, Atsushi TI Atypical development of spontaneous social cognition in autism spectrum disorders SO BRAIN & DEVELOPMENT LA English DT Review DE Autism spectrum disorders; Theory of Mind; Imitation; Mimicry; Eye gaze; Gaze processing; Social cognition ID MIRROR-NEURON SYSTEM; EYE-GAZE; ASPERGER-SYNDROME; DEVELOPING-CHILDREN; MIND; INDIVIDUALS; ATTRIBUTION; IMITATION; DIRECTION; RECOGNITION AB Individuals with autism spectrum disorders (ASD) have profound impairment in the development of social interaction and communication. However, it is also known that some 'high-functioning' individuals with ASD show apparently typical capacity to. process social information in a controlled experimental settings, despite their difficulties in daily life. The current paper overviews the spontaneous social cognition, spontaneous processing of social information in the absence of explicit instruction or task demand, in individuals with ASD. Three areas of the researches, false belief attribution, imitation/mimicry, and eye gaze processing, have been reviewed. The literatures suggest that high-functioning individuals with ASD (a) do not spontaneously attribute false belief to others, even though they can easily do so when explicitly instructed, (b) can imitate others' goal-directed actions under explicit instruction and show spontaneous mimicry of others' actions when they attend to the action, but are less likely to show spontaneous mimicry without the task structure to navigate attention to others' action and (c) can process others' gaze direction and shift attention to others' gaze directions, but fail to spontaneously attend to another person's eyes in social and communicative context, and less likely to:be prompted to respond in response to perceived eye contact. These results are consistent with the claim that individuals with ASD do not spontaneously attend to socially relevant information, even though they can easily process the same information when their attention is navigated towards it. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 Univ London, Ctr Brain & Cognit Dev, London WC1E 7HX, England. RP Senju, A (reprint author), Univ London, Ctr Brain & Cognit Dev, Malet St, London WC1E 7HX, England. EM a.senju@bbk.ac.uk FU UK Medical Research Council [G1100252] FX The contents of this paper are based on the presentation at the "Exploring Autism Research Collaboration between Japan and United States Joint Academic Conference on Autism Spectrum Disorders", Tokyo, Japan, December 1-3, 2011. The author was supported by the UK Medical Research Council Career Development Award (G1100252) during the preparation of this paper. 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PD FEB PY 2013 VL 35 IS 2 BP 96 EP 101 DI 10.1016/j.braindev.2012.08.002 PG 6 WC Clinical Neurology SC Neurosciences & Neurology GA 086GZ UT WOS:000314673400002 PM 22964276 ER PT J AU Honda, H AF Honda, Hideo TI How can epidemiological studies contribute to understanding autism spectrum disorders? SO BRAIN & DEVELOPMENT LA English DT Article DE Autism spectrum disorders; Prevalence; Incidence; Accuracy; Precision ID TOTAL POPULATION; CUMULATIVE INCIDENCE; CHILDHOOD AUTISM; CHILDREN; JAPAN AB More and more studies on the frequency of autism spectrum disorders (ASD) have been published recently, most of which show the increase in prevalence data. In this review, the author pointed out factors and parameters to be considered in analyzing frequency data, i.e., the enlargement of the concept of autism, prevalence and incidence, accuracy and precision in the initial screening, and the effect of the "vaccine debate". The proportion of high-functioning ASD has been growing higher and higher due to better recognition in the last few years, and the apparent increase might still be the tip of an iceberg. Future epidemiological studies should include themes on diversity of the longitudinal course and re-conceptualization of ASD by dimensional diagnosis. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 Yamanashi Prefectural Ctr Psychol Dev, Kofu, Yamanashi 4000005, Japan. RP Honda, H (reprint author), Yamanashi Prefectural Ctr Psychol Dev, 1-2-12 Kitashin, Kofu, Yamanashi 4000005, Japan. 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PD FEB PY 2013 VL 35 IS 2 BP 102 EP 105 DI 10.1016/j.braindev.2012.06.003 PG 4 WC Clinical Neurology SC Neurosciences & Neurology GA 086GZ UT WOS:000314673400003 PM 22766241 ER PT J AU Uchino, S Waga, C AF Uchino, Shigeo Waga, Chikako TI SHANK3 as an autism spectrum disorder-associated gene SO BRAIN & DEVELOPMENT LA English DT Review DE Autism spectrum disorder; SHANK3; 22q13.3 Deletion syndrome; DNA methylation; Synapse ID 22Q13.3 DELETION SYNDROME; SCAFFOLDING PROTEIN SHANK3; COPY NUMBER VARIATION; DIFFERENTIAL EXPRESSION; DNA METHYLATION; FAMILY; MUTATIONS; IDENTIFICATION; DYSFUNCTION; BEHAVIORS AB SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density of excitatory synapses, and plays important roles in the formation, maturation, and maintenance of synapses. Haploinsufficiency of the SHANK3 gene causes a developmental disorder, 22q13.3 deletion syndrome (known as Phelan-McDermid syndrome), that is characterized by severe expressive language and speech delay, hypotonia, global developmental delay, and autistic behavior. Since several SHANK3 mutations have been identified in a particular phenotypic group in patients with autism spectrum disorder (ASD), the SHANK3 is strongly suspected of being involved in the pathogenesis and neuropathology of ASD. Five CpG-islands have been identified in the SHANK3 gene, and tissue-specific expression of SHANK3 is regulated by DNA methylation in an epigenetic manner. Cumulative evidence has shown that several SHANK3 variants are expressed in the developing rodent brain and that their expression is regulated by DNA methylation of intragenic promoters. We identified novel SHANK3 transcripts whose transcription started at the vicinity of the CpG-island 2 in the mouse brain. Shank3 mutant mice exhibit autistic-like behaviors, including impaired social interaction and repetitive behaviors. In this article we review recent findings in regard to higher brain functions of SHANK3, epigenetic regulation of SHANK3 expression, and SHANK3-related ASD that were obtained from genetic analyses in ASD patients, molecular biological studies using developing mouse brains, and studies of Shank3 mutant mice. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Uchino, Shigeo; Waga, Chikako] Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neurochem, Kodaira, Tokyo 1878502, Japan. RP Uchino, S (reprint author), Natl Ctr Neurol & Psychiat, Natl Inst Neurosci, Dept Neurochem, 4-1-1 Ogawahigashi, Kodaira, Tokyo 1878502, Japan. 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Recent studies have employed multimodal magnetic resonance imaging (MRI) indices as intermediate phenotypes of this behavioral phenotype to link candidate genes with the autistic social difficulty. As MRI indices, functional MRI (fMRI), structural MRI, and MR-spectroscopy have been examined in subjects with autism spectrum disorders. As candidate genes, this mini-review has much interest in oxytocin-receptor genes (OXTR), since recent studies have repeatedly reported their associations with normal variations in social cognition and behavior as well as with their extremes, autistic social dysfunction. Through previous increasing studies, medial prefrontal cortex, hypothalamus and amygdala have repeatedly been revealed as neural correlates of autistic social behavior by MRI multimodalities and their relationship to OXTR. For further development of this research area, this mini-review integrates recent accumulating evidence about human behavioral and neural correlates of OXTR. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Yamasue, Hidenori] Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Bunkyo Ku, Tokyo 1138655, Japan. [Yamasue, Hidenori] Japan Sci & Technol Agcy, CREST, Chiyoda Ku, Tokyo 1020075, Japan. RP Yamasue, H (reprint author), Univ Tokyo, Grad Sch Med, Dept Neuropsychiat, Bunkyo Ku, 7-3-1 Hongo, Tokyo 1138655, Japan. 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PD FEB PY 2013 VL 35 IS 2 BP 111 EP 118 DI 10.1016/j.braindev.2012.08.010 PG 8 WC Clinical Neurology SC Neurosciences & Neurology GA 086GZ UT WOS:000314673400005 PM 22986294 ER PT J AU Benvenuto, A Battan, B Porfirio, MC Curatolo, P AF Benvenuto, Arianna Battan, Barbara Porfirio, Maria Cristina Curatolo, Paolo TI Pharmacotherapy of autism spectrum disorders SO BRAIN & DEVELOPMENT LA English DT Review DE Autism spectrum disorders; Maladaptive behaviors; Pharmacotherapy; Novel targeted treatments ID PERVASIVE DEVELOPMENTAL DISORDERS; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; PLACEBO-CONTROLLED TRIAL; DOUBLE-BLIND; OPEN-LABEL; PHARMACOLOGICAL-TREATMENT; REPETITIVE BEHAVIORS; ADOLESCENT AUTISM; CLINICAL-RESPONSE; CROSSOVER TRIAL AB Although no phauuacological or behavioral therapy has currently proven effective for treating all core symptoms of autism, many dysfunctional behaviors may be treated pharmacologically. Drug treatments should always be part of a comprehensive management plan that includes behavioral and educational interventions, and should be focused on specific targets. Several classes of psychotropic medications have been used to decrease the wide range of "maladaptive" or "interfering" behaviors and associated medical problems that can interfere with relationships and physical health and hinder the implementation of various non-pharmacological interventions. Atypical neuroleptics have been shown to be useful in the treatment of behavioral symptoms in autism. Attention deficit and hyperactivity disorder medications may be effective for counteracting the additional features of hyperactivity and short attention span. Antiepileptic drugs and selective serotonin reuptake inhibitors have shown promising results, but there are no specific indications for them as of yet. With respect to potential drug targets, some clinical features are caused by a dysfunction in neurochemical signaling systems, and thus may improve with selective pharmacological interventions acting on specific abnormal neurobiological pathways. Recent animal studies can be useful models for understanding the common pathogenic pathways leading to autism spectrum disorders (ASDs), and have the potential to offer new biologically focused treatment options. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Benvenuto, Arianna; Battan, Barbara; Porfirio, Maria Cristina; 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 FEB PY 2013 VL 35 IS 2 BP 119 EP 127 DI 10.1016/j.braindev.2012.03.015 PG 9 WC Clinical Neurology SC Neurosciences & Neurology GA 086GZ UT WOS:000314673400006 PM 22541665 ER PT J AU Neville, B AF Neville, Brian TI Role of ESSENCE for preschool children with neurodevelopmental disorders SO BRAIN & DEVELOPMENT LA English DT Review DE Causal pathways; Early developmental disorders ID DYSKINETIC CEREBRAL-PALSY; HEMIPLEGIA AB Early Symptomatic Syndromes Eliciting Neurodevelopmental Examinations (ESSENCE) has been proposed as a guide to the neurodevelopmental needs of the under 5s. The problems are their multiplicity, the presence of partial features of specific conditions e.g. autism spectrum disorder and attention deficit/hyperactivity disorder and the young age of the children. For these reasons, child development teams often leave families to cope with very difficult situations. This paper includes epilepsy and the cerebral palsies to see if providing precise diagnostic categories and therapeutic targets cart-be achieved. It includes a discussion of causal sequences which have yet to be applied comprehensively to the neurodevelopment disorders. (C) 2012 Published by Elsevier B.V. on behalf of The Japanese Society of Child Neurology. C1 [Neville, Brian] UCL Inst Child Hlth, Neurosci Unit, London WC1N 3LU, England. [Neville, Brian] Young Epilepsy, Lingfield, Surrey, England. RP Neville, B (reprint author), UCL Inst Child Hlth, Neurosci Unit, 4-5 Long Yard, London WC1N 3LU, England. 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PD FEB PY 2013 VL 35 IS 2 BP 128 EP 132 DI 10.1016/j.braindev.2012.06.011 PG 5 WC Clinical Neurology SC Neurosciences & Neurology GA 086GZ UT WOS:000314673400007 PM 22874529 ER PT J AU Estes, A Olson, E Sullivan, K Greenson, J Winter, J Dawson, G Munson, J AF Estes, Annette Olson, Erin Sullivan, Katherine Greenson, Jessica Winter, Jamie Dawson, Geraldine Munson, Jeffrey TI Parenting-related stress and psychological distress in mothers of toddlers with autism spectrum disorders SO BRAIN & DEVELOPMENT LA English DT Article DE Autism spectrum disorder; Parents; Distress; Toddlers; Parenting-stress ID BEHAVIOR PROBLEMS; CHILDREN; HEALTH AB Background:Parents of children with autism spectrum disorders (ASDs) are at risk for higher stress levels than parents of children with other developmental disabilities and typical development. Recent advances in early diagnosis have resulted in younger children being diagnosed with ASDs but factors associated with parent stress in this age group are not well understood. Aims: The present study examined parenting-related stress and psychological distress in mothers of toddlers with ASD, developmental delay without ASD (DD), and typical development. The impact of child problem behavior and daily living skills on parenting-stress and psychological distress were further investigated. Methods: Participants were part of a larger research study on early ASD intervention. Results: Parent self-report of parenting-related stress and psychological distress was utilized. Parents of toddlers with ASD demonstrated increased parenting-related stress compared with parents of toddlers with DD and typical development. However, psychological distress did not differ significantly between the groups. Child behavior problems, but not daily living skills emerged as a significant predictor of parenting-related stress and psychological distress. This was true for both mothers of children with ASD and DD. Conclusions: These finding suggest that parents' abilities to manage and reduce behavior problems is a critical target for interventions for young children with ASD and DD in order to improve child functioning and decrease parenting-related stress. (C). 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Estes, Annette; Greenson, Jessica; Winter, Jamie] Univ Washington, Dept Speech & Hearing Sci, Seattle, WA 98195 USA. [Estes, Annette; Sullivan, Katherine] Univ Washington, Dept Psychol, Seattle, WA 98195 USA. [Olson, Erin] Univ Washington, Dept Educ, Seattle, WA 98195 USA. [Dawson, Geraldine] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA. [Munson, Jeffrey] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA. 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PD FEB PY 2013 VL 35 IS 2 BP 133 EP 138 DI 10.1016/j.braindev.2012.10.004 PG 6 WC Clinical Neurology SC Neurosciences & Neurology GA 086GZ UT WOS:000314673400008 PM 23146332 ER PT J AU Mori, K Toda, Y Ito, H Mori, T Goji, A Fujii, E Miyazaki, M Harada, M Kagami, S AF Mori, Kenji Toda, Yoshihiro Ito, Hiromichi Mori, Tatsuo Goji, Aya Fujii, Emiko Miyazaki, Masahito Harada, Masafumi Kagami, Shoji TI A proton magnetic resonance spectroscopic study in autism spectrum disorders: Amygdala and orbito-frontal cortex SO BRAIN & DEVELOPMENT LA English DT Article DE Autism; Proton magnetic resonance spectroscopy (H-1-MRS); Amygdala; Orbito-frontal cortex ID PREFRONTAL CORTEX; NEURAL SYSTEMS; BRAIN; HIPPOCAMPUS; METABOLITES; IMPAIRMENT; ACTIVATION; CHILDREN AB We previously reported neural dysfunction in the anterior cingulate cortex and dorsolateral prefrontal cortex in autistic patients using proton magnetic resonance spectroscopy (H-1-MRS). In this investigation, we measured chemical metabolites in the left amygdala and the bilateral orbito-frontal cortex (OFC), which are the main components of the social brain. We also examined the association between these metabolic findings and social abilities in subjects with autism. The study group included 77 autistic patients (3-6 years old; mean age 4.1; 57 boys and 20 girls). The control subjects were 31 children (3-6 years old; mean age 4.0; 23 boys and 8 girls). Conventional proton MR spectra were obtained using the STEAM sequence with parameters of TR = 5 sec and TE = 15 msec by a 1.5-tesla clinical MRI system. We analyzed the concentrations of N-acetylaspartate (NAA), creatine/phosphocreatine (Cr), and choline-containing compounds (Cho) using LCModel (Ver. 6.1). The concentrations of NAA in the left amygdala and the bilateral OFC in autistic patients were significantly decreased compared to those in the control group. In the autistic patients, the NAA concentrations in these regions correlated with their social quotient. These findings suggest the presence of neuronal dysfunction in the amygdala and OFC in autism. Dysfunction in the amygdala and OFC may contribute to the pathogenesis of autism. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Mori, Kenji; Kagami, Shoji] Univ Tokushima, Grad Sch, Inst Hlth Biosci, Dept Child Hlth & Nursing, Tokushima 7708503, Japan. [Toda, Yoshihiro; Ito, Hiromichi; Mori, Tatsuo; Goji, Aya; Fujii, Emiko; Miyazaki, Masahito] Univ Tokushima, Grad Sch, Inst Hlth Biosci, Dept Pediat, Tokushima 7708503, Japan. [Harada, Masafumi] Univ Tokushima, Grad Sch, Inst Hlth Biosci, Dept Radiol, Tokushima 7708503, Japan. RP Mori, K (reprint author), Univ Tokushima, Grad Sch, Inst Hlth Biosci, Dept Child Hlth & Nursing, 3-18-15 Kuramoto Cho, Tokushima 7708503, Japan. 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PD FEB PY 2013 VL 35 IS 2 BP 139 EP 145 DI 10.1016/j.braindev.2012.09.016 PG 7 WC Clinical Neurology SC Neurosciences & Neurology GA 086GZ UT WOS:000314673400009 PM 23114054 ER PT J AU Pecorelli, A Leoncini, S De Felice, C Signorini, C Cerrone, C Valacchi, G Ciccoli, L Hayek, J AF Pecorelli, Alessandra Leoncini, Silvia De Felice, Claudio Signorini, Cinzia Cerrone, Cosimina Valacchi, Giuseppe Ciccoli, Lucia Hayek, Joussef TI Non-protein-bound iron and 4-hydroxynonenal protein adducts in classic autism SO BRAIN & DEVELOPMENT LA English DT Article DE Neurodevelopment disorders; Oxidative stress; Free iron; Lipid peroxidation; 4-hydroxynonenal protein adducts ID OXIDATIVE STRESS; SPECTRUM DISORDERS; PRENATAL EXPOSURE; LIPID-PEROXIDATION; RETT-SYNDROME; CHILDREN; ERYTHROCYTES; METABOLISM; SEVERITY; HYPOXIA AB A link between oxidative stress and autism spectrum disorders (ASDs) remains controversial with opposing views on its role in the pathogenesis of the disease. We investigated for the first time the levels of non-protein-bound iron (NPBI), a pro-oxidant factor, and 4-hydroxynonenal protein adducts (4-HNE PAs), as a marker of lipid peroxidation-induced protein damage, in classic autism. Patients with classic autism (n = 20, mean age 12.0 +/- 6.2 years) and healthy controls (n = 18, mean age 11.7 +/- 6.5 years) were examined. Intraerythrocyte and plasma NPBI were measured by high performance liquid chromatography (HPLC), and 4-HNE PAs in erythrocyte membranes and plasma were detected by Western blotting. The antioxidant defences were evaluated as erythrocyte glutathione (GSH) levels using a spectrophotometric assay. Intraerythrocyte and plasma NPBI levels were significantly increased (1.98- and 3.56-folds) in autistic patients, as compared to controls (p = 0.0019 and p < 0.0001, respectively); likewise, 4-HNE PAs were significantly higher in erythrocyte membranes and in plasma (1.58- and 1.6-folds, respectively) from autistic patients than controls (p = 0.0043 and p = 0.0001, respectively). Erythrocyte GSH was slightly decreased (-10.34%) in patients compared to controls (p = 0.0215). Our findings indicate an impairment of the redox status in classic autism patients, with a consequent imbalance between oxidative stress and antioxidant defences. Increased levels of NPBI could contribute to lipid peroxidation and, consequently, to increased plasma and erythrocyte membranes 4-HNE PAs thus amplifying the oxidative damage, potentially contributing to the autistic phenotype. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Pecorelli, Alessandra; Leoncini, Silvia; Signorini, Cinzia; Ciccoli, Lucia] Univ Siena, Dept Pathophysiol Expt Med & Publ Hlth, I-53100 Siena, Italy. [De Felice, Claudio] Azienda Osped Univ Senese, Univ Hosp, Neonatal Intens Care Unit, I-53100 Siena, Italy. [Cerrone, Cosimina] Res Training & Rehabil Inst, Siena, Italy. [Valacchi, Giuseppe] Univ Ferrara, Dept Evolutionary Biol, I-44100 Ferrara, Italy. [Valacchi, Giuseppe] Kyung Hee Univ, Dept Food & Nutr, Seoul, South Korea. [Hayek, Joussef] AOUS, Univ Hosp, Child Neuropsychiat Unit, I-53100 Siena, Italy. RP De Felice, C (reprint author), Azienda Osped Univ Senese, Univ Gen Hosp, Neonatal Intens Care Unit, Viale M Bracci 16, I-53100 Siena, Italy. 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PD FEB PY 2013 VL 35 IS 2 BP 146 EP 154 DI 10.1016/j.braindev.2012.03.011 PG 9 WC Clinical Neurology SC Neurosciences & Neurology GA 086GZ UT WOS:000314673400010 PM 22534237 ER PT J AU Miyajima, T Kumada, T Saito, K Fujii, T AF Miyajima, Tomoko Kumada, Tomohiro Saito, Keiko Fujii, Tatsuya TI Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy SO BRAIN & DEVELOPMENT LA English DT Article DE Autosomal dominant nocturnal frontal lobe epilepsy; Autism spectrum disorder; Mental retardation ID MUTATIONS AB In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) associated with a neuronal nicotinic acetylcholine receptor alpha 4 subunit mutation (S252L). We followed the siblings of this family, and found that the elder brother had Asperger's disorder without mental retardation (MR) and the younger brother had autistic disorder with profound MR. The clinical epileptic features of the siblings were very similar, and both had deficits in socialization, but their cognitive development differed markedly. It thus seems that epilepsy is the direct phenotype of the S252L mutation, whereas other various factors modulate the cognitive and social development. No patients with ADNFLE have previously been reported to have autism spectrum disorder or profound MR. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Miyajima, Tomoko; Kumada, Tomohiro; Saito, Keiko; Fujii, Tatsuya] Shiga Med Ctr Children, Dept Pediat, Shiga 5240022, Japan. RP Miyajima, T (reprint author), Shiga Med Ctr Children, Dept Pediat, 5-7-30 Moriyama, Shiga 5240022, Japan. 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PD FEB PY 2013 VL 35 IS 2 BP 155 EP 157 DI 10.1016/j.braindev.2012.07.012 PG 3 WC Clinical Neurology SC Neurosciences & Neurology GA 086GZ UT WOS:000314673400011 PM 22883468 ER PT J AU Narcisa, V Discenza, M Vaccari, E Rosen-Sheidley, B Hardan, AY Couchon, E AF Narcisa, Vivien Discenza, Marie Vaccari, Erica Rosen-Sheidley, Beth Hardan, Antonio Y. Couchon, Elizabeth TI Parental Interest in a Genetic Risk Assessment Test for Autism Spectrum Disorders SO CLINICAL PEDIATRICS LA English DT Article DE autism; survey; autism spectrum disorders; genetics ID SOCIOECONOMIC-STATUS; DIAGNOSIS; CHILDREN; INTERVENTION; PREVALENCE; CALIFORNIA; RECURRENCE AB To better understand parental opinions regarding the diagnostic process and use of genetic testing to assess risk for autism spectrum disorders (ASDs) in the younger siblings of affected children in the Unites States, we conducted a survey of parents who had at least one child with ASD. A total of 162 surveys were completed anonymously using an Internet-based survey tool. The mean reported time to ASD diagnosis and age at diagnosis were 35.2 months and 56.6 months, respectively. Seventy-two percent of parents felt there was a delay in diagnosis. Most parents indicated they would want to pursue genetic testing if a test were available that could identify risk in a younger sibling (80%). Earlier evaluation/intervention, closer monitoring, and lessened anxiety were reasons cited for testing. Our survey indicates most parents would pursue genetic risk assessment testing in children at high risk for ASD. C1 [Narcisa, Vivien] Arcadia Univ, Glenside, PA USA. [Discenza, Marie; Vaccari, Erica] Boston Univ, Sch Med, Boston, MA 02118 USA. [Rosen-Sheidley, Beth] Boston Childrens Hosp, Boston, MA USA. [Hardan, Antonio Y.] Stanford Univ, Stanford, CA 94305 USA. [Couchon, Elizabeth] IntegraGen Inc, Cambridge, MA 02141 USA. RP Couchon, E (reprint author), IntegraGen Inc, Med Sci Liaison, 2 Canal Pk,5th Floor, Cambridge, MA 02141 USA. EM elizabeth.couchon@integragen.com FU IntegraGen, Inc; IntegraGen, Inc, Cambridge, Massachusetts FX The authors declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article: E. Couchon is an employee of IntegraGen, Inc, V. Narcisa, M. Discenza, and E. Vaccari received financial compensation from IntegraGen, Inc, associated with their support of this project. A. Hardan and B. Rosen-Sheidley are paid consultants to IntegraGen, Inc. This project was neither reviewed nor endorsed by Arcadia University, the Boston University School of Medicine, Boston Children's Hospital or Stanford University.This survey was sponsored by IntegraGen, Inc, Cambridge, Massachusetts. 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PD FEB PY 2013 VL 52 IS 2 BP 139 EP 146 DI 10.1177/0009922812466583 PG 8 WC Pediatrics SC Pediatrics GA 083OV UT WOS:000314475300005 PM 23193169 ER PT J AU Arborelius, L Fors, U Svensson, AK Sygel, K Kristiansson, M AF Arborelius, Lotta Fors, Uno Svensson, Anna-Karin Sygel, Kristina Kristiansson, Marianne TI A new interactive computer simulation system for violence risk assessment of mentally disordered violent offenders SO CRIMINAL BEHAVIOUR AND MENTAL HEALTH LA English DT Article ID PSYCHOPATHY CHECKLIST AB Background Assessment of risk of future violence has developed from reliance on static indicators towards a more dynamic approach. In the latter context, however, the offender is seldom confronted with real life situations. Aims The aim of this study is to evaluate a computer-based system Reactions on Display, which presents human interactions based on real-life situations for its effectiveness in distinguishing between potentially violent offenders with mental disorder and a healthy comparison group. Methods Male offenders with autism spectrum disorders or psychosis were recruited from specialist forensic psychiatric units in Sweden and healthy participants from the local communities. Each consenting participant was presented with film clips of a man in neutral and violent situations, which at critical moments stopped the story to ask him to predict the thoughts, feelings and actions of the actor. Results Offender patients, irrespective of diagnosis, detected fewer emotional reactions in the actor in the non-violent sequence compared with controls. When asked to choose one of four violent actions, the offender patients chose more violent actions than did the controls. They also reported fewer physical reactions in the actors when actors were being violent. There were also some examples of incongruent or deviant responses by some individual patients. Conclusions and implications for practice The use of interactive computer simulation techniques is not only generally acceptable to offender patients, but it also helps to differentiate their current response style to particular circumstances from that of healthy controls in a way that does not rely on their verbal abilities and may tap more effectively into their emotional reactions than standard verbal questions and answer approaches. This may pave the way for Reactions on Display providing a useful complement to traditional risk assessment, and a training route with respect to learning more empathic responding, thus having a role in aiding risk management.Copyright (c) 2013 John Wiley & Sons, Ltd. C1 [Arborelius, Lotta] Karolinska Inst, Div Psychol, Dept Clin Neurosci, Stockholm, Sweden. 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TI Decoding the genetics of speech and language SO CURRENT OPINION IN NEUROBIOLOGY LA English DT Article ID DYSLEXIA SUSCEPTIBILITY GENE; AUTISM SPECTRUM DISORDER; ALTERED BRAIN ACTIVATION; BASAL GANGLIA CIRCUITS; IN-UTERO RNAI; DEVELOPMENTAL DYSLEXIA; NEURONAL MIGRATION; FOXP2 GENE; ULTRASONIC VOCALIZATION; AUSTRALIAN POPULATION AB Researchers are beginning to uncover the neurogenetic pathways that underlie our unparalleled capacity for spoken language. Initial clues come from identification of genetic risk factors implicated in developmental language disorders. The underlying genetic architecture is complex, involving a range of molecular mechanisms. For example, rare protein-coding mutations of the FOXP2 transcription factor cause severe problems with sequencing of speech sounds, while common genetic risk variants of small effect size in genes like CNTNAP2, ATP2C2 and CMIP are associated with typical forms of language impairment. In this article, we describe how investigations of these and other candidate genes, in humans, animals and cellular models, are unravelling the connections between genes and cognition. This depends on interdisciplinary research at multiple levels, from determining molecular interactions and functional roles in neural cell-biology all the way through to effects on brain structure and activity. C1 [Graham, Sarah A.; Fisher, Simon E.] Max Planck Inst Psycholinguist, Language & Genet Dept, NL-6525 XD Nijmegen, Netherlands. [Fisher, Simon E.] Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 EN Nijmegen, Netherlands. RP Fisher, SE (reprint author), Max Planck Inst Psycholinguist, Language & Genet Dept, Wundtlaan 1, NL-6525 XD Nijmegen, Netherlands. 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TI Candidate and non-candidate genes in behavior genetics SO CURRENT OPINION IN NEUROBIOLOGY LA English DT Article ID SEROTONIN TRANSPORTER GENE; DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; STRESSFUL LIFE EVENTS; COMMON VARIANTS; PROMOTER POLYMORPHISM; 5-HTTLPR; DEPRESSION; MODERATION; SCHIZOPHRENIA AB In this review we discuss recent developments in psychiatric genetics: on the one hand, studies using whole genome approaches (genome-wide association studies (GWAS) and exome sequencing) are coming close to finding genes and molecular variants that contribute to disease susceptibility; on the other candidate genes, such as the serotonin transporter, continue to dominate in genetic studies of brain imaging phenotypes and in protracted searches for gene by environment interactions. These two areas intersect, in that new information about genetic effects from whole genome approaches, should (but does not always) inform the single locus analyses. 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Neurobiol. PD FEB PY 2013 VL 23 IS 1 BP 57 EP 61 DI 10.1016/j.conb.2012.07.005 PG 5 WC Neurosciences SC Neurosciences & Neurology GA 084TV UT WOS:000314562900010 PM 22878161 ER PT J AU Crespi, B AF Crespi, Bernard TI Diametric gene-dosage effects as windows into neurogenetic architecture SO CURRENT OPINION IN NEUROBIOLOGY LA English DT Article ID 17Q21.31 MICRODELETION SYNDROME; PRADER-WILLI-SYNDROME; BEHAVIORAL PHENOTYPES; BIPOLAR DISORDER; UP-REGULATION; KANSL1 CAUSE; AUTISM; SCHIZOPHRENIA; MICE; 16P11.2 AB Gene expression can be modulated in two opposite directions, towards higher or lower amounts of product. How do diametric changes in gene dosage influence neurological development and function? Recent studies of transgenic and knockout mouse models, genomic copy-number variants, imprinted-gene expression alterations, and sex-chromosome aneuploidies are revealing examples of 'mirror-extreme' brain and behavior phenotypes, which provide unique insights into neurodevelopmental architecture. These convergent studies quantitatively connect gene dosages with specific trajectories and outcomes, with important implications for the experimental dissection of normal neurological functions, the genetic analysis of psychiatric disorders, the development of pharmacological therapies, and mechanisms for the evolution of human brain and behavior. C1 Simon Fraser Univ, Dept Biol Sci, Burnaby, BC V5A 1S6, Canada. RP Crespi, B (reprint author), Simon Fraser Univ, Dept Biol Sci, 8888 Univ Dr, Burnaby, BC V5A 1S6, Canada. EM crespi@sfu.ca FU Natural Sciences and Engineering Research Council of Canada FX I am grateful to the Natural Sciences and Engineering Research Council of Canada for support. 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Opin. Neurobiol. PD FEB PY 2013 VL 23 IS 1 BP 143 EP 151 DI 10.1016/j.conb.2012.08.005 PG 9 WC Neurosciences SC Neurosciences & Neurology GA 084TV UT WOS:000314562900021 PM 22995549 ER PT J AU Abdallah, MW Larsen, N Grove, J Bonefeld-Jorgensen, EC Norgaard-Pedersen, B Hougaard, DM Mortensen, EL AF Abdallah, Morsi W. Larsen, Nanna Grove, Jakob Bonefeld-Jorgensen, Eva C. Norgaard-Pedersen, Bent Hougaard, David M. Mortensen, Erik L. TI Neonatal chemokine levels and risk of autism spectrum disorders: Findings from a Danish historic birth cohort follow-up study SO CYTOKINE LA English DT Article DE Autistic disorder; Chemokine; Newborn; Population Register; Dried blood spot ID CYTOKINES; PREVALENCE; DIAGNOSIS; PLACENTA; REGISTER; DENMARK AB A potential role of chemokines in the pathophysiology of Autism Spectrum Disorders (ASDs) has been previously suggested. In a recent study we examined levels of three inflammatory chemokines (MCP-1, MIP-1 alpha and RANTES) in samples of amniotic fluid of children diagnosed later in life with ASD and controls frequency-matched to cases on gender and year of birth. In this follow-up study, levels of the same chemokines were analyzed postnatally in dried blood spot samples from the same subjects utilizing the Danish Newborn Screening Biobank. Crude estimates showed decreased levels of RANTES. In the adjusted estimates, no differences were found in levels of the three examined chemokines in ASD cases compared to controls. Our findings may cautiously suggest an altered cell-mediated immunity during the early neonatal period in ASD. Further research is needed to examine the relationship between maternal/fetal and neonatal chemokine levels and their role in ASD. (c) 2012 Elsevier Ltd. All rights reserved. C1 [Abdallah, Morsi W.] Aarhus Univ HLTH, Epidemiol Sect, DK-8000 Aarhus C, Denmark. [Abdallah, Morsi W.; Larsen, Nanna; Norgaard-Pedersen, Bent; Hougaard, David M.] Dept Clin Biochem, DK-2300 Copenhagen S, Denmark. [Abdallah, Morsi W.; Larsen, Nanna; Norgaard-Pedersen, Bent; Hougaard, David M.] Immunol Statens Serum Inst, DK-2300 Copenhagen S, Denmark. [Abdallah, Morsi W.] Univ Rostock, Dept Psychiat & Psychotherapy, Rostock Univ Hosp, D-18147 Rostock, Germany. [Grove, Jakob] Aarhus Univ HLTH, Dept Biomed, DK-8000 Aarhus C, Denmark. [Grove, Jakob] Bioinformat Res Ctr BiRC, DK-8000 Aarhus C, Denmark. [Bonefeld-Jorgensen, Eva C.] Aarhus Univ HLTH, Ctr Arct Environm Med, DK-8000 Aarhus C, Denmark. [Bonefeld-Jorgensen, Eva C.] Aarhus Univ HLTH, Unit Cellular & Mol Toxicol, DK-8000 Aarhus C, Denmark. [Mortensen, Erik L.] Univ Copenhagen, Inst Publ Hlth, DK-1014 Copenhagen K, Denmark. [Mortensen, Erik L.] Univ Copenhagen, Ctr Healthy Aging, DK-1014 Copenhagen K, Denmark. RP Abdallah, MW (reprint author), Univ Rostock, Dept Psychiat & Psychotherapy, Rostock Univ Hosp, Gehlsheimer Str 20, D-18147 Rostock, Germany. EM morsi.abdallah@med.uni-rostock.de; nla@ssi.dk; grove@humgen.au.dk; ebj@mil.au.dk; bnp@ssi.dk; dh@ssi.dk; elme@sund.ku.dk RI Bonefeld-Jorgensen, Eva Cecilie/A-1682-2015 FU Danish Medical Research Foundation; Danish Ministry of the Interior and Health [271-05-0523/09-060179]; Aarhus University HEALTH, Aarhus, Denmark [494028]; Statens Serum Institute, Department of Clinical Biochemistry and Immunology, Copenhagen, Denmark [494028] FX The authors thank Lasse S. Jonsson and Jorn Riis from Statens Serum Institute (SSI) and Maria Pryds for their assistance in data retrieval and also Vibeke Munk from University of Copenhagen for her administrative assistance. We also thank Dr. Poul Thorsen for his input and SSI Luminex Lab technical staff for their time and efforts. The Danish Historic Birth Cohort was established at Statens Serum Institute in Copenhagen with a grant from The Danish Medical Research Foundation and The Danish Ministry of the Interior and Health (Project No. 271-05-0523/09-060179). This study is funded jointly by Aarhus University HEALTH, Aarhus, Denmark and Statens Serum Institute, Department of Clinical Biochemistry and Immunology, Copenhagen, Denmark (Project Title: Intrauterine Exposures and Childhood Psychiatric Disorders, Project ID: 494028). 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SO EUROPEAN JOURNAL OF MEDICAL GENETICS LA English DT Article DE HNF1B deletion; Interphasic FISH; 17q12 microdeletion; Buccal smear ID HYPERECHOGENIC KIDNEYS; GENOMIC REARRANGEMENTS; CHROMOSOME 17Q12; RENAL-DISEASE; TCF2 GENE; HEPATOCYTE; MUTATIONS; SPECTRUM; DELETION; AUTISM AB HNF1B gene anomalies include renal development defects associated with cysts and are well known by pediatric nephrologists that ask for molecular analysis of this gene. Two types of genomic rearrangements are reported: mutation and more frequently deletion. Using microsatellites or CGH array the size of the deletion was found to be at least of 1.2 Mb including 15 genes among which HNF1B, leading to the diagnosis of chromosomal microdeletion. Fluorescent In Situ Hybridization (FISH) is a simple routinely performed technique, considered as the referring tool to diagnose microdeletion in genetic practice. We performed interphasic FISH on buccal smears from 6 patients known to have HNF1B deletion to valid our technique and to determine the size of the 17q12 deletion. All the patients were found to present a 17q12 microdeletion. Our results showed that FISH is a rapid, reliable and specific technique to diagnose 17q12 microdeletion and might be performed as non invasive sampling procedure useful in pediatric practice. In conclusion we propose to use interphasic FISH to screen pediatric patients presenting with renal abnormalities possibly linked to HNF1B anomaly. Molecular analysis and MLPA (Multiplex Ligand Probe Analysis) could be performed in cases with normal interphasic FISH to detect a point mutation of the gene or more rarely a single exon deletion. (C) 2013 Elsevier Masson SAS. All rights reserved. C1 [Laffargue, Fanny; Bourthoumieu, Sylvie; Yardin, Catherine] Hop Univ Mere & Enfant HME, Dept Histol Cytol Cellular Biol & Cytogenet, F-87042 Limoges, France. [Bellanne-Chantelot, Christine] Univ Paris 06, Hop Pitie Salpetriere, AP HP, Dept Genet, Paris, France. [Laffargue, Fanny; Guigonis, Vincent] Hop Univ Mere & Enfant HME, Dept Pediat, Limoges, France. [Bourthoumieu, Sylvie; Guigonis, Vincent; Yardin, Catherine] CHU Dupuytren, CHREC Ctr Rech Clin HME, Limoges, France. RP Yardin, C (reprint author), Hop Univ Mere & Enfant, Dept Histol Cytol Cellular Biol & Cytogenet, 8 Ave Dominique Larrey, F-87042 Limoges, France. 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J. Med. Genet. PD FEB PY 2013 VL 56 IS 2 BP 93 EP 97 DI 10.1016/j.ejmg.2012.12.002 PG 5 WC Genetics & Heredity SC Genetics & Heredity GA 085PY UT WOS:000314627900005 PM 23261960 ER PT J AU Petersen, AK Ahmad, A Shafiq, M Brown-Kipphut, B Fong, CT Iqbal, MA AF Petersen, Andrea Klunder Ahmad, Ausaf Shafiq, Mustafa Brown-Kipphut, Brigette Fong, Chin-To Iqbal, M. Anwar TI Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder SO EUROPEAN JOURNAL OF MEDICAL GENETICS LA English DT Article DE 1q43 deletion; Acetylcholine receptor muscarinic 3; CHRM3; Autistic disorder; M3-muscarinic receptor; Microarray CGH ID DEVELOPMENTAL DELAY; MENTAL-RETARDATION; CLEFT-PALATE; M3 RECEPTORS; TRANSMISSION; DEFECT; ARRAY; 15Q14; BOY AB Deletions on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotypes which include intellectual disability, autism, seizures, microcephaly/craniofacial dysmorphology, corpus callosal agenesis/hypogenesis, cardiac and genital anomalies, hand and foot abnormalities and short stature. Genotype-phenotype correlation reported a minimum region of 2 Mb at 1q43-q44. We report on a 3 1/2 year old male patient diagnosed with autistic disorder who has social withdrawal, eating problems, repetitive stereotypic behaviors including self-injurious head banging and hair pulling, and no seizures, anxiety, or mood swings. Array comparative genomic hybridization (aCGH) showed an interstitial deletion of 473 kb at 1q43 region (239,412,391-239,885,394; NCBI build37/hg19) harboring only CHRM3 (Acetylcholine Receptor, Muscarinic, 3; OMIM: 118494). Recently, another case with a de novo interstitial deletion of 911 kb at 1q43 encompassing three genes including CHRM3 was reported. The M3 muscarinic receptor influences a multitude of central and peripheral nervous system processes via its interaction with acetylcholine and may be an important modulator of behavior, learning and memory. We propose CHRM3 as a candidate gene responsible for our patient's specific phenotype as well as the overlapping phenotypic features of other patients with 1q43 or 1q43-q44 deletions. (C) 2013 Published by Elsevier Masson SAS. C1 [Petersen, Andrea Klunder; Fong, Chin-To] Univ Rochester, Dept Pediat, Med Ctr, Rochester, NY 14642 USA. [Ahmad, Ausaf; Shafiq, Mustafa; Brown-Kipphut, Brigette; Iqbal, M. Anwar] Univ Rochester, Dept Pathol & Lab Med, Med Ctr, Rochester, NY 14642 USA. RP Iqbal, MA (reprint author), Univ Rochester, Med Ctr, 601 Elmwood Ave,POB 608, Rochester, NY 14642 USA. 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Di Cristo, Graziella TI Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency SO HUMAN MUTATION LA English DT Article DE SYNGAP1; haploinsufficiency; intellectual disability; autism; epilepsy ID MENTAL-RETARDATION; NMDA RECEPTOR; VISUAL-CORTEX; COMPLEX; INNERVATION; DISORDERS; RASGAP; STATE AB De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). All disease-causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an association between this type of mutations and NSID. Here, we report the identification of the first pathogenic missense mutations (c.1084T>C [p.W362R], c.1685C>T [p.P562L]) and three novel truncating mutations (c.283dupC [p.H95PfsX5], c.2212_2213del [p.S738X], and (c.2184del [p.N729TfsX31]) in SYNGAP1 in patients with NSID. A subset of these patients also showed ataxia, autism, and a specific form of generalized epilepsy that can be refractory to treatment. All of these mutations occurred de novo, except c.283dupC, which was inherited from a father who is a mosaic. Biolistic transfection of wild-type SYNGAP1 in pyramidal cells from cortical organotypic cultures significantly reduced activity-dependent phosphorylated extracellular signal-regulated kinase (pERK) levels. In contrast, constructs expressing p.W362R, p.P562L, or the previously described p.R579X had no significant effect on pERK levels. These experiments suggest that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function. Moreover, our study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption. C1 [Berryer, Martin H.; Hamdan, Fadi F.; Carmant, Lionel; Patry, Lysanne; Neugnot-Cerioli, Mathilde; Beauchamp, Miriam H.; Michaud, Jacques L.; Di Cristo, Graziella] Univ Montreal, Ctr Excellence Neurosci, Montreal, PQ, Canada. [Berryer, Martin H.; Hamdan, Fadi F.; Carmant, Lionel; Patry, Lysanne; Neugnot-Cerioli, Mathilde; Beauchamp, Miriam H.; Michaud, Jacques L.; Di Cristo, Graziella] St Justine Hosp Res Ctr, Montreal, PQ, Canada. [Klitten, Laura L.; Moller, Rikke S.; Hjalgrim, Helle] Danish Epilepsy Ctr, Dianalund, Denmark. [Klitten, Laura L.; Moller, Rikke S.; Tommerup, Niels] Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Copenhagen, Denmark. [Schwartzentruber, Jeremy; Majewski, Jacek] McGill Univ, Montreal, PQ, Canada. [Schwartzentruber, Jeremy; Majewski, Jacek] Genome Quebec Innovat Ctr, Montreal, PQ, Canada. [Dobrzeniecka, Sylvia; Rochefort, Daniel; Rouleau, Guy A.] Univ Montreal, Ctr Excellence Neurosci, Ctr Rech, Ctr Hosp Univ Montreal, Montreal, PQ, Canada. [Dobrzeniecka, Sylvia; Rochefort, Daniel; Rouleau, Guy A.] Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada. [Lacaille, Jean-Claude] Univ Montreal, Dept Physiol, Grp Rech Syst Nerveux Cent, Montreal, PQ H3C 3J7, Canada. [Niu, Zhiyv; Eng, Christine M.; Yang, Yaping] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA. [Palardy, Sylvain] St Justine Hosp, Dept Psychiat, Montreal, PQ, Canada. [Belhumeur, Celine] St Justine Hosp, Dept Pediat, Montreal, PQ, Canada. [Immken, LaDonna; Patel, Gayle Simpson] Specially Children, Austin, TX USA. [Majewski, Jacek] McGill Univ, Dept Human Genet, Montreal, PQ, Canada. [Tarnopolsky, Mark A.] McMaster Univ, Hamilton, ON, Canada. [Tarnopolsky, Mark A.] McMaster Univ, Dept Med, Hamilton, ON, Canada. [Tarnopolsky, Mark A.] McMaster Univ, Dept Pediat, Hamilton, ON, Canada. [Scheffzek, Klaus] Med Univ Innsbruck, Bioctr, Div Biol Chem, A-6020 Innsbruck, Austria. [Hjalgrim, Helle] Univ So Denmark, Inst Reg Hlth Serv Res, Odense, Denmark. RP Michaud, JL (reprint author), CHU St Justine Res Ctr, 3175 Cote St Catherine, Montreal, PQ H3T 1C5, Canada. EM jacques.michaud@recherche-ste-justine.qc.ca FU Canadian Institute of Health Research; Reseau de Medecine Genetique Appliquee; Scottish Rite Charitable Foundation; FORGE Canada; Fonds de Recherche en Sante du Quebec; Danish National Research Foundation; Lundbeck Foundation FX Contract grant sponsors: Canadian Institute of Health Research; Reseau de Medecine Genetique Appliquee; Scottish Rite Charitable Foundation; FORGE Canada.J.L.M. holds a National Scientist Award from the Fonds de Recherche en Sante du Quebec. G.D.C. holds a Canada Research Chair. N.T. is supported by the Danish National Research Foundation and the Lundbeck Foundation. We thank Stefan Welti for assistance with Figure 2, and the patients and their parents for participating in this study. We are grateful to Dr. Nicole Leclerc for help with cell culture experiments and Dr. Myriam Srour for helpful discussions. 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Mutat. PD FEB PY 2013 VL 34 IS 2 BP 385 EP 394 DI 10.1002/humu.22248 PG 10 WC Genetics & Heredity SC Genetics & Heredity GA 083PP UT WOS:000314477700016 PM 23161826 ER PT J AU Ota, T Iida, J Sawada, M Suehiro, Y Kishimoto, N Tanaka, S Nagauchi, K Nakanishi, Y Yamamuro, K Negoro, H Iwasaka, H Sadamatsu, M Kishimoto, T AF Ota, Toyosaku Iida, Junzo Sawada, Masayuki Suehiro, Yuko Kishimoto, Naoko Tanaka, Shohei Nagauchi, Kiyoyuki Nakanishi, Yoko Yamamuro, Kazuhiko Negoro, Hideki Iwasaka, Hidemi Sadamatsu, Miyuki Kishimoto, Toshifumi TI Comparison of pervasive developmental disorder and schizophrenia by the Japanese version of the National Adult Reading Test SO INTERNATIONAL JOURNAL OF PSYCHIATRY IN CLINICAL PRACTICE LA English DT Article DE Japanese version of National Adult Reading Test; pervasive developmental disorder; schizophrenia; Wechsler Adult Intelligence Scale-Revised ID ASPERGERS-SYNDROME; PSYCHOSIS; AUTISM AB Objective. In adults, it is sometimes difficult to discriminate between pervasive developmental disorder (PDD) and schizophrenia (SCH) when positive symptoms are not outstanding. We examined whether the Japanese version of the National Adult Reading Test (JART), is a valid scale for evaluating pre-morbid intelligence quotient (IQ) in patients with SCH, and the Wechsler Adult Intelligence Scale-Revised (WAIS-R) are useful for helping to discriminate between PDD and SCH. Methods. Sixteen patients with adult PDD and 16 age-, education-and sex-matched patients with SCH participated in the present study. In addition, two groups were matched for JART and GAF scores. All subjects were scored on the JART and WAIS-R after informed consent on the aim of this study. Examiners who were blind to the diagnoses measured JART and WAIS-R. Results. Significant diagnosis-by-IQ examination interactions were found (F [1,30] = 10.049, P = 0.003). Furthermore, WAIS-R scores of the PDD group were higher than those of the SCH group (P = 0.002) considering two groups were matched for JART. Conclusions. The comparison of IQ in the PDD group and in the SCH group by JART and WAIS-R might be an easy and useful method for helping to discriminate between PDD and SCH. C1 [Ota, Toyosaku; Sawada, Masayuki; Suehiro, Yuko; Kishimoto, Naoko; Tanaka, Shohei; Yamamuro, Kazuhiko; Sadamatsu, Miyuki; Kishimoto, Toshifumi] Nara Med Univ, Sch Med, Dept Psychiat, Nara, Japan. [Iida, Junzo] Nara Med Univ, Fac Nursing, Nara, Japan. [Nagauchi, Kiyoyuki; Nakanishi, Yoko] Tenri Hosp, Dept Psychiat, Nara, Japan. [Negoro, Hideki; Iwasaka, Hidemi] Nara Univ Educ, Nara, Japan. RP Ota, T (reprint author), 840 Shijyou Cho, Kashihara, Nara 6348522, Japan. 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Studying the relationship between psychotic-like and autistic-like symptoms in risk groups such as 22q11 deletion syndrome (22q11DS) and schizotypal personality disorder (SPD) has the potential to shed light on such etiologic factors; thus, the current study examined prodromal symptoms and autistic features in samples of 22q11DS and SPD subjects using standardized diagnostic measures, including the Structured Interview for Prodromal Symptoms (SIPS) and the Autism Diagnostic Inventory-Revised (ADI-R). Results showed that SPD subjects manifested significantly more severe childhood and current social as well as stereotypic autistic features, as well as more severe positive prodromal symptoms. The two groups did not differ on negative, disorganized, or general prodromal symptoms, but were distinguishable based on correlations between prodromal and autistic features; the relationships between childhood autistic features and current prodromal symptoms were stronger for the SPD group. 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Mottron, Laurent TI The Level and Nature of Autistic Intelligence III: Inspection Time SO JOURNAL OF ABNORMAL PSYCHOLOGY LA English DT Article DE autism; Asperger syndrome; perception; processing speed; Raven Progressive Matrices ID CHILDREN; SPEED; DISORDER; SPECTRUM; INDIVIDUALS; PERFORMANCE; ABILITIES; SAVANT; FMRI; IQ AB Across the autism spectrum, level of intelligence is highly dependent on the psychometric instrument used for assessment, and there are conflicting views concerning which measures best estimate autistic cognitive abilities. Inspection time is a processing speed measure associated with general intelligence in typical individuals. We therefore investigated autism spectrum performance on inspection time in relation to two different general intelligence tests. Autism spectrum individuals were divided into autistic and Asperger subgroups according to speech development history. Compared to a typical control group, mean inspection time for the autistic subgroup but not the Asperger subgroup was significantly shorter (by 31%). However, the shorter mean autistic inspection time was evident only when groups were matched on Wechsler IQ and disappeared when they were matched using Raven's Progressive Matrices. When autism spectrum abilities are compared to typical abilities, results may be influenced by speech development history as well as by the instrument used for intelligence matching. C1 [Barbeau, Elise B.; Soulieres, Isabelle; Mottron, Laurent] Univ Montreal, Fernand Seguin Res Ctr, CET EDUM, Montreal, PQ, Canada. [Barbeau, Elise B.; Mottron, Laurent] Univ Montreal, Dept Psychiat, Montreal, PQ H3C 3J7, Canada. [Soulieres, Isabelle] Univ Montreal, Dept Psychol, Montreal, PQ H3C 3J7, Canada. [Zeffiro, Thomas A.] Massachusetts Gen Hosp, Neural Syst Grp, Boston, MA 02114 USA. RP Mottron, L (reprint author), Hop Riviere Des Prairies, 7070 Blvd Perras, Montreal, PQ H1E 1A4, Canada. 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PD FEB PY 2013 VL 122 IS 1 BP 295 EP 301 DI 10.1037/a0029984 PG 7 WC Psychology, Clinical; Psychology, Multidisciplinary SC Psychology GA 085VD UT WOS:000314641500032 PM 23088375 ER PT J AU Yaghmaie, P Koudelka, CW Simpson, EL AF Yaghmaie, Pouya Koudelka, Caroline W. Simpson, Eric L. TI Mental health comorbidity in patients with atopic dermatitis SO JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY LA English DT Article DE Atopic dermatitis; comorbidities; attention deficit hyperactivity disorder; anxiety; depression; autism; prevalence ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; POPULATION-BASED SAMPLE; QUALITY-OF-LIFE; PRESCHOOL-CHILDREN; UNITED-STATES; ECZEMA; ANXIETY; PREVALENCE; DISEASE; ASSOCIATIONS AB Background: Recent data, primarily from Europe, suggest that children with atopic dermatitis (AD) might be at increased risk of mental health disorders. Objective: We aimed to quantify the mental health burden associated with pediatric AD in the United States. Methods: A cross-sectional study design was used analyzing data from the 2007 National Survey of Children's Health, a survey reporting on the health status of 92,642 noninstitutionalized children aged 0 to 17 years. The lifetime prevalence of various provider-diagnosed mental health conditions was calculated for those with and without a history of AD. Results: The odds of having attention deficit hyperactivity disorder was significantly increased in children with AD compared with the odds in control subjects without AD (odds ratio, 1.87; 95% CI, 1.54-2.27), even after controlling for known confounders. The adjusted odds ratios for depression, anxiety, conduct disorder, and autism were 1.81 (95% CI, 1.33-2.46), 1.77 (95% CI, 1.36-2.29), 1.87 (95% CI, 1.46-2.39), and 3.04 (95% CI, 2.13-4.34), respectively, and these estimates were all statistically significant. A clear dose-dependent relationship was observed between the prevalence of a mental health disorder and the reported severity of the skin disease. Conclusions: Our data reveal a striking association between mental health disorders and AD in the US pediatric population. The severity of the skin disease alters the strength of the association. Prospective cohort studies are needed to verify these associations and to explore underlying mechanisms. Strategies to prevent AD or to aggressively treat early skin inflammation might modify the risk of mental health disorders in at-risk children. (J Allergy Clin Immunol 2013;131:428-33.) C1 [Yaghmaie, Pouya] Oregon Hlth & Sci Univ, Sch Med, Portland, OR 97239 USA. [Koudelka, Caroline W.] Oregon Hlth & Sci Univ, Oregon Clin & Translat Res Inst, Portland, OR 97239 USA. [Simpson, Eric L.] Oregon Hlth & Sci Univ, Dept Dermatol, Portland, OR 97239 USA. RP Simpson, EL (reprint author), Oregon Hlth & Sci Univ, Dept Dermatol, Mail Code CH16D,3303 SW Bond Ave, Portland, OR 97239 USA. EM simpsone@ohsu.edu FU National Eczema Association; National Institute of Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of Health [5K23AR057486]; OHSU School of Medicine Bacon Award; Oregon Clinical and Translational Research Institute (OCTRI) from the National Center for Research Resources (NCRR), a component of the National Institutes of Health (NIH) [5 KL2 RR024141-04]; NIH Roadmap for Medical Research; National Institutes of Health; Oregon Health and Science University School of Medicine Bacon Award; Oregon Clinical and Translational Research Institute; National Center for Research Resources FX Supported by the National Eczema Association, a Mentored Patient-oriented Research Career Development Award from the National Institute of Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of Health (5K23AR057486), and the OHSU School of Medicine Bacon Award. Support was also obtained from the Oregon Clinical and Translational Research Institute (OCTRI; grant no. 5 KL2 RR024141-04) from the National Center for Research Resources (NCRR), a component of the National Institutes of Health (NIH), and the NIH Roadmap for Medical Research.E. L. Simpson has received grants from the National Eczema Association, the National Institutes of Health, the Oregon Health and Science University School of Medicine Bacon Award, the Oregon Clinical and Translational Research Institute, and the National Center for Research Resources and has consultant arrangements with Alcimed, Amgen, Asubio, Brickell Biotech, Celgen Corporation, Centocor, Clarion Healthcare, Galderma Laboratories, LEK Consulting, Medicis Pharmaceutical, Panmira Pharmaceuticals, Regeneron, and Versant Ventures. The rest of the authors declare that they have no relevant conflicts of interest. 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Allergy Clin. Immunol. PD FEB PY 2013 VL 131 IS 2 BP 428 EP 433 DI 10.1016/j.jaci.2012.10.041 PG 6 WC Allergy; Immunology SC Allergy; Immunology GA 086CT UT WOS:000314661500021 PM 23245818 ER PT J AU Falcomata, TS Lang, R AF Falcomata, Terry S. Lang, Russell TI Introduction to the Special Issue: Challenging Behavior and Individuals with Developmental and Physical Disabilities SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Autism; Angelman syndrome; Challenging behavior; Choice; Feeding disorders; Functional communication training; Noncontinent reinforcement; Self-monitoring; Telehealth AB The goal of the Journal of Physical and Developmental Disabilities' 2013 special issue is to highlight recent works in the assessment and treatment of challenging behavior in the area of developmental and physical disabilities. The special issue is comprised of literature reviews on as well as evaluations of novel approaches to the treatment of challenging behavior that utilize antecedent and consequence-based methods. Extensions of antecedent-based approaches are included in the areas of response blocking and fading; noncontingent reinforcement (NCR); and the incorporation of choice. Extensions of consequence-based approaches are included in the areas of functional communication training (FCT); and differential reinforcement (DRO) and self-monitoring. C1 [Falcomata, Terry S.] Univ Texas Austin, Austin, TX 78712 USA. [Falcomata, Terry S.; Lang, Russell] Meadows Ctr Preventing Educ Risk, Austin, TX USA. [Lang, Russell] Texas State Univ, Austin, TX USA. RP Falcomata, TS (reprint author), Univ Texas Austin, Dept Special Educ, 1 Univ Stn,D5300, Austin, TX 78712 USA. EM falcomata@austin.utexas.edu CR Demanche J, 2013, J DEV PHYS DISABIL, V25, P79, DOI 10.1007/s10882-012-9304-2 DeRosa NM, 2013, J DEV PHYS DISABIL, V25, P119, DOI 10.1007/s10882-012-9312-2 Doyle NM, 2013, J DEV PHYS DISABIL, V25, P91, DOI 10.1007/s10882-012-9305-1 Falcomata TS, 2013, J DEV PHYS DISABIL, V25, P5, DOI 10.1007/s10882-012-9311-3 Kadey HJ, 2013, J DEV PHYS DISABIL, V25, P343, DOI 10.1007/s10882-012-9313-1 Lydon S., 2012, J DEV PHYS DISABILIT MacDonald A., 2012, J DEV PHYS DISABILIT Nuernberger JE, 2013, J DEV PHYS DISABIL, V25, P105, DOI 10.1007/s10882-012-9309-x Poppes P, 2010, RES DEV DISABIL, V31, P1269, DOI 10.1016/j.ridd.2010.07.017 Radstaake M., 2012, J DEV PHYS DISABIL, DOI [10.1007/s10882-012-9302-4c, DOI 10.1007/S10882-012-9302-4C] Rispoli M, 2013, J DEV PHYS DISABIL, V25, P135, DOI 10.1007/s10882-012-9315-z Wacker DP, 2013, J DEV PHYS DISABIL, V25, P35, DOI 10.1007/s10882-012-9314-0 NR 12 TC 0 Z9 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1056-263X J9 J DEV PHYS DISABIL JI J. Dev. Phys. Disabil. PD FEB PY 2013 VL 25 IS 1 SI SI BP 1 EP 4 DI 10.1007/s10882-012-9328-7 PG 4 WC Rehabilitation SC Rehabilitation GA 084JC UT WOS:000314534100001 ER PT J AU Falcomata, TS Wacker, DP AF Falcomata, Terry S. Wacker, David P. TI On the Use of Strategies for Programming Generalization During Functional Communication Training: A Review of the Literature SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Review DE Functional communication training; Generalization ID BEHAVIOR PROBLEMS; YOUNG-CHILDREN; AUTISM; SETTINGS; MAINTENANCE; ACQUISITION; EXTINCTION; PUNISHMENT AB We conducted a review of the literature pertaining to Functional Communication Training (FCT) and the principles and tactics for programming generalization. Ten studies of FCT and generalization were identified, analyzed, and summarized using the framework provided by Stokes and Osnes (Behavior Therapist 20:337-355, 1989) that detailed principles and tactics programming generalization. In addition to the tactic of recruiting natural consequences which is inherent to FCT, several studies evaluated additional strategies for programming generalization during FCT including modification of maladaptive consequences, reinforcement of occurrences of generalization, training sufficient stimulus exemplars, programming common physical stimuli, and programming common social stimuli. The results of these studies suggest that a) FCT and the tactic of recruiting natural consequences is sometimes sufficient to produce generalization but not in every case, and b) generalization of the treatment effects of FCT can be enhanced through the use of specific tactics for programming generalization. Overall, the results of this review suggest that a relatively small number of studies of FCT have systematically evaluated generalization. Thus, future research should continue to evaluate specific strategies for programming generalization with FCT. 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TI Conducting Functional Communication Training via Telehealth to Reduce the Problem Behavior of Young Children with Autism SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Functional communication training; Telehealth; Autism spectrum disorders; Problem behavior ID LONG-TERM TREATMENT; ABERRANT BEHAVIOR AB Functional communication training (FCT) was conducted by parents of 17 young children with autism spectrum disorders who displayed problem behavior. All procedures were conducted at regional clinics located an average of 15 miles from the families' homes. Parents received coaching via telehealth from behavior consultants who were located an average of 222 miles from the regional clinics. Parents first conducted functional analyses with telehealth consultation (Wacker, Lee et al. Journal of Applied Behavior Analysis, in press) and then conducted FCT that was matched to the identified function of problem behavior. Parent assistants located at the regional clinics received brief training in the procedures and supported the families during the clinic visits. FCT, conducted within a nonconcurrent multiple baseline design, reduced problem behavior by an average of 93.5 %. Results suggested that FCT can be conducted by parents via telehealth when experienced applied behavior analysts provide consultation. C1 [Wacker, David P.; Kopelman, Todd G.; Lindgren, Scott D.; Waldron, Debra B.] Univ Iowa, Dept Pediat, Carver Coll Med, Childrens Hosp, Iowa City, IA 52242 USA. [Wacker, David P.; Lee, John F.; Dalmau, Yaniz C. Padilla; Kuhle, Jennifer; Pelzel, Kelly E.; Dyson, Shannon; Schieltz, Kelly M.] Univ Iowa, Ctr Disabil & Dev, Childrens Hosp, Iowa City, IA 52242 USA. RP Wacker, DP (reprint author), Univ Iowa, Ctr Disabil & Dev, Childrens Hosp, 100 Hawkins Dr,Room 251, Iowa City, IA 52242 USA. 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M., 1988, BEHAVIORAL DISORDERS, V14, P7 Rogers S., 2011, AUTISM SPECTRUM DISO, P1081 Tiger Jeffrey H, 2008, Behav Anal Pract, V1, P16 Volkert VM, 2009, J APPL BEHAV ANAL, V42, P145, DOI 10.1901/jaba.2009.42-145 Wacker D. P., PSYCHOL REC IN PRESS Wacker D. P., 2005, ED PSYCHOL, V25, P233, DOI [10. 1080/0144341042000301184, DOI 10.1080/0144341042000301184] Wacker D. P., J APPL BEHA IN PRESS Wacker D. P., 2004, MAINTENANCE EFFECTS Wacker DP, 1998, J DEV BEHAV PEDIATR, V19, P260, DOI 10.1097/00004703-199808000-00004 Wacker DP, 2011, J EXP ANAL BEHAV, V96, P261, DOI 10.1901/jeab.2011.96-261 NR 23 TC 6 Z9 6 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1056-263X J9 J DEV PHYS DISABIL JI J. Dev. Phys. Disabil. PD FEB PY 2013 VL 25 IS 1 SI SI BP 35 EP 48 DI 10.1007/s10882-012-9314-0 PG 14 WC Rehabilitation SC Rehabilitation GA 084JC UT WOS:000314534100004 ER PT J AU Demanche, J Chok, JT AF Demanche, John Chok, James T. TI The Use of Wrist Weights and Vibratory Stimulation to Treat Self-Injurious Behavior SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Wrist weights; Matched and unmatched vibratory stimulation; Self-injurious behavior; Automatic reinforcement ID SENSORY REINFORCEMENT; FUNCTIONAL-ANALYSIS; INTERVENTION AB Identifying successful interventions for persistent and frequent self-injurious behavior maintained by automatic reinforcement can be very challenging. Two treatments that have shown some promise in isolation have been the use of wrist weights, and vibratory stimulation as an alternative means to achieve sensory reinforcement. The current study examined the effects of these interventions separately, and in combination, to address chronic self-injurious behavior in a child with autism and intellectual disability. Although wrist weights resulted in substantial decreases in self-injurious behavior, the combination of wrist weights and vibratory stimulation matching the hypothesized sensory consequences of self-injurious behavior resulted in further decreases. The use of vibratory stimulation that did not match the hypothesized sensory consequences of SIB was not effective at reducing SIB when it was presented alone or in combination with wrist weights. C1 [Demanche, John; Chok, James T.] Melmark New England, Andover, MA 01810 USA. RP Chok, JT (reprint author), Melmark New England, 461 River Rd, Andover, MA 01810 USA. EM jchok@melmarkne.org CR Hanley GP, 1998, J APPL BEHAV ANAL, V31, P307, DOI 10.1901/jaba.1998.31-307 IWATA BA, 1994, J APPL BEHAV ANAL, V27, P197, DOI 10.1901/jaba.1994.27-197 Meyerson L., 1970, PSYCHOLOGICAL ASPECT, V17, P133 O'Reilly MF, 2003, BEHAV MODIF, V27, P538, DOI 10.1177/0145445503255573 Piazza CC, 2000, J APPL BEHAV ANAL, V33, P13, DOI 10.1901/jaba.2000.33-13 Sandler AG, 2001, J DEV PHYS DISABIL, V13, P307, DOI 10.1023/A:1016662404603 VANHOUTEN R, 1993, J APPL BEHAV ANAL, V26, P197, DOI 10.1901/jaba.1993.26-197 WELLS ME, 1983, AM J MENT DEF, V87, P664 NR 8 TC 1 Z9 1 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1056-263X J9 J DEV PHYS DISABIL JI J. Dev. Phys. Disabil. PD FEB PY 2013 VL 25 IS 1 SI SI BP 79 EP 90 DI 10.1007/s10882-012-9304-2 PG 12 WC Rehabilitation SC Rehabilitation GA 084JC UT WOS:000314534100007 ER PT J AU Doyle, NM DeRosa, NM Roane, HS AF Doyle, Niamh M. DeRosa, Nicole M. Roane, Henry S. TI Development of a Combined Intervention to Decrease Problem Behavior Displayed by Siblings with Pervasive Developmental Disorder SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Parent training; Group contingency; Problem behavior ID FUNCTIONAL-ANALYSIS; SELF-INJURY; CHILDREN; AUTISM; REINFORCEMENT; DISABILITIES; ADJUSTMENT; ATTENTION AB Approximately 10-20 % of children with pervasive developmental disorder are likely to have a sibling with that disorder. Under such circumstances, caregivers may be faced with simultaneously implementing separate interventions for their children. Merging different treatments to decrease both children's problem behavior may permit for more fluid parent responses and increased procedural integrity. The current study describes one approach to treating problem behavior displayed by siblings with autism. Separate functional analyses identified a different maintaining reinforcer for each child's aggression. These behaviors were initially treated separately using functional communication training and delay fading. To ensure that the caregiver would be able to manage these siblings' behaviors concurrently, a protocol using differential reinforcement of other behaviors was implemented that was based on the separate functions of each child's behavior. C1 [Doyle, Niamh M.; DeRosa, Nicole M.; Roane, Henry S.] SUNY Upstate Med Univ, Kelberman Ctr, Syracuse, NY 13202 USA. [Doyle, Niamh M.] SUNY Upstate Med Univ, Dept Pediat, Syracuse, NY 13202 USA. RP Doyle, NM (reprint author), SUNY Upstate Med Univ, Dept Pediat, 600 E Genesee St,Suite 124, Syracuse, NY 13202 USA. EM doylen@upstate.edu CR Bachmeyer MH, 2009, J APPL BEHAV ANAL, V42, P641, DOI 10.1901/jaba.2009.42-641 Ben Chaabane Delia B, 2009, J Appl Behav Anal, V42, P671, DOI 10.1901/jaba.2009.42-671 Borrero CSW, 2006, J APPL BEHAV ANAL, V39, P375, DOI 10.1901/jaba.2006.170-04 Call NA, 2005, J APPL BEHAV ANAL, V38, P385, DOI 10.1901/jaba.2005.51-04 Constantino JN, 2010, AM J PSYCHIAT, V167, P1349, DOI 10.1176/appi.ajp.2010.09101470 DAY HM, 1994, J APPL BEHAV ANAL, V27, P279, DOI 10.1901/jaba.1994.27-279 Farley SE, 2005, J FAM PRACTICE, V54, P162 Fischer SM, 1997, J APPL BEHAV ANAL, V30, P335, DOI 10.1901/jaba.1997.30-335 FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491 Fisher WW, 1996, J APPL BEHAV ANAL, V29, P117, DOI 10.1901/jaba.1996.29-117 Griffith GM, 2010, J AUTISM DEV DISORD, V40, P610, DOI 10.1007/s10803-009-0906-1 Hanley GP, 2001, J APPL BEHAV ANAL, V34, P17, DOI 10.1901/jaba.2001.34-17 Hanley GP, 1997, J APPL BEHAV ANAL, V30, P229, DOI 10.1901/jaba.1997.30-229 Hastings RP, 2003, J AUTISM DEV DISORD, V33, P99, DOI 10.1023/A:1022290723442 Ingvarsson ET, 2008, J APPL BEHAV ANAL, V41, P435, DOI 10.1901/jaba.2008.41-435 IWATA BA, 1994, J APPL BEHAV ANAL, V27, P197, DOI 10.1901/jaba.1994.27-197 Kamps D, 2011, J POSIT BEHAV INTERV, V13, P154, DOI 10.1177/1098300711398935 KAZDIN AE, 1977, J APPL BEHAV ANAL, V10, P141, DOI 10.1901/jaba.1977.10-141 Lalli JS, 1996, J APPL BEHAV ANAL, V29, P391, DOI 10.1901/jaba.1996.29-391 Lerman DC, 2000, RES DEV DISABIL, V21, P183, DOI 10.1016/S0891-4222(00)00033-0 Meadan H, 2009, TOP EARLY CHILD SPEC, V29, P90, DOI 10.1177/0271121409337950 Moes DR, 2002, J AUTISM DEV DISORD, V32, P519, DOI 10.1023/A:1021298729297 Pelham WE, 2008, J CLIN CHILD ADOLESC, V37, P184, DOI 10.1080/15374410701818681 Petalas MA, 2009, AUTISM, V13, P471, DOI 10.1177/1362361309335721 Phillips KJ, 2008, BEHAV INTERVENT, V23, P1, DOI 10.1002/bin.252 Quintero N, 2010, FOCUS AUTISM DEV DIS, V25, P37, DOI 10.1177/1088357609350367 Roane HS, 2004, J APPL BEHAV ANAL, V37, P213, DOI 10.1901/jaba.2004.37-213 RODRIGUE JR, 1993, J AUTISM DEV DISORD, V23, P665, DOI 10.1007/BF01046108 Ross P, 2006, J INTELLECT DEV DIS, V31, P77, DOI 10.1080/13668250600710864 Smith MR, 1999, RES DEV DISABIL, V20, P183, DOI 10.1016/S0891-4222(99)00002-5 SMITH RG, 1993, J APPL BEHAV ANAL, V26, P183, DOI 10.1901/jaba.1993.26-183 Wallace MD, 2004, J APPL BEHAV ANAL, V37, P89, DOI 10.1901/jaba.2004.37-89 Worsdell AS, 2000, J APPL BEHAV ANAL, V33, P167, DOI 10.1901/jaba.2000.33-167 NR 33 TC 1 Z9 1 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1056-263X J9 J DEV PHYS DISABIL JI J. Dev. Phys. Disabil. PD FEB PY 2013 VL 25 IS 1 SI SI BP 91 EP 104 DI 10.1007/s10882-012-9305-1 PG 14 WC Rehabilitation SC Rehabilitation GA 084JC UT WOS:000314534100008 ER PT J AU Nuernberger, JE Vargo, KK Ringdahl, JE AF Nuernberger, Jodi E. Vargo, Kristina K. Ringdahl, Joel E. TI An Application of Differential Reinforcement of Other Behavior and Self-Monitoring to Address Repetitive Behavior SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Repetitive behavior; Challenging behavior; Autism; Differential reinforcement; Self-monitoring ID INJURIOUS-BEHAVIOR; STEREOTYPY; DISABILITIES; AUTISM; DRO AB Differential reinforcement of other behavior (DRO) and self-monitoring was used to reduce repetitive challenging behavior in the form of eyelash, eyebrow, and hair pulling exhibited by a 19-year-old woman with an autism spectrum disorder. Treatment evaluation included DRO with competing and non-competing stimuli in a private therapy room. Once the DRO interval exceeded 10 min, treatment was conducted in the participant's classroom. Results of the study suggested DRO was successful in both environments and across both stimulus types. C1 [Nuernberger, Jodi E.; Vargo, Kristina K.; Ringdahl, Joel E.] So Illinois Univ, Inst Rehabil, Carbondale, IL 62901 USA. RP Ringdahl, JE (reprint author), So Illinois Univ, Inst Rehabil, 1025 Lincoln Dr,Rehn Hall, Carbondale, IL 62901 USA. EM joelringdahl@siu.edu CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Centers for Disease Control and Prevention, 2012, MORBIDITY MORTALITY Chowdhury M, 2011, RES DEV DISABIL, V32, P383, DOI 10.1016/j.ridd.2010.11.015 COWDERY GE, 1990, J APPL BEHAV ANAL, V23, P497, DOI 10.1901/jaba.1990.23-497 FISHER W, 1992, J APPL BEHAV ANAL, V25, P491, DOI 10.1901/jaba.1992.25-491 Iwata Brian A, 2008, Behav Anal Pract, V1, P3 IWATA BA, 1994, J APPL BEHAV ANAL, V27, P215, DOI 10.1901/jaba.1994.27-215 IWATA BA, 1994, J APPL BEHAV ANAL, V27, P197, DOI 10.1901/jaba.1994.27-197 Kliebert Megan L, 2011, Behav Anal Pract, V4, P17 Matson J. L., 1995, QUESTIONS BEHAV FUNC Matson J. L., 2008, J DEV PHYS DISABIL, V20, P15 Matson JL, 2009, DEV NEUROREHABIL, V12, P122, DOI 10.1080/17518420902936730 Piazza CC, 1998, J APPL BEHAV ANAL, V31, P165, DOI 10.1901/jaba.1998.31-165 Rapp JT, 2005, RES DEV DISABIL, V26, P527, DOI 10.1016/j.ridd.2004.11.005 Ringdahl JE, 1997, J APPL BEHAV ANAL, V30, P203, DOI 10.1901/jaba.1997.30-203 Ringdahl JE, 2002, BEHAV INTERVENT, V17, P43, DOI 10.1002/bin.105 Shabani DB, 2001, BEHAV INTERVENT, V16, P279, DOI 10.1002/bin.96.abs Shore BA, 1997, J APPL BEHAV ANAL, V30, P21, DOI 10.1901/jaba.1997.30-21 Taylor BA, 2005, BEHAV INTERVENT, V20, P239, DOI 10.1002/bin.200 Tiger JH, 2009, J APPL BEHAV ANAL, V42, P315, DOI 10.1901/jaba.2009.42-315 VOLLMER TR, 1993, J APPL BEHAV ANAL, V26, P9, DOI 10.1901/jaba.1993.26-9 Woods D. W., 2001, TIC DISORDERS TRICHO, P33 Woods DW, 2002, BEHAV MODIF, V26, P315, DOI 10.1177/01445502026003001 NR 23 TC 4 Z9 4 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1056-263X J9 J DEV PHYS DISABIL JI J. Dev. Phys. Disabil. PD FEB PY 2013 VL 25 IS 1 SI SI BP 105 EP 117 DI 10.1007/s10882-012-9309-x PG 13 WC Rehabilitation SC Rehabilitation GA 084JC UT WOS:000314534100009 ER PT J AU Rispoli, M Ganz, J Neely, L Goodwyn, F AF Rispoli, Mandy Ganz, Jennifer Neely, Leslie Goodwyn, Fara TI The Effect of Noncontingent Positive Versus Negative Reinforcement on Multiply Controlled Behavior During Discrete Trial Training SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Challenging behavior; Discrete trial training; Multiple functions; Noncontingent reinforcement ID DEVELOPMENTAL-DISABILITIES; FUNCTIONAL-ANALYSIS; ESCAPE; INTERVENTION; ABERRANT AB Challenging behaviors with multiple functions are often difficult to treat as function-based treatments may interfere with one another. Noncontingent reinforcement may be one efficient and effective means of treating multiply controlled behavior. The purposes of this study were to compare the use of noncontingent tangible reinforcement (NCT) to noncontingent escape (NCE) with two young children with autism who engaged in multiply controlled challenging behavior. Second, we wished to examine the effect of NCT and NCE on compliance during discrete trial training. A reversal design with an embedded alternating treatment design was used to compare NCT and NCE. The NCT treatment resulted in greater reductions of challenging behavior than the NCE treatment for both participants. Compliance during discrete trial training increased under both NCT and NCE treatments. C1 [Rispoli, Mandy; Ganz, Jennifer; Neely, Leslie; Goodwyn, Fara] Texas A&M Univ, College Stn, TX 77843 USA. RP Rispoli, M (reprint author), Texas A&M Univ, College Stn, TX 77843 USA. EM mrispoli@tamu.edu CR Arick J. 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PD FEB PY 2013 VL 25 IS 1 SI SI BP 135 EP 148 DI 10.1007/s10882-012-9315-z PG 14 WC Rehabilitation SC Rehabilitation GA 084JC UT WOS:000314534100011 ER PT J AU Lydon, S Healy, O Dwyer, M AF Lydon, Sinead Healy, Olive Dwyer, Martina TI An Examination of Heart Rate During Challenging Behavior in Autism Spectrum Disorder SO JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES LA English DT Article DE Physiological arousal; Heart rate; Physiology; Autism spectrum disorder; Challenging behavior; Self-injurious behavior; Stereotypy; Behavior analysis; Psychophysiology ID YOUNG-CHILDREN; FUNCTION QABF; AROUSAL; PSYCHOPHYSIOLOGY; INDIVIDUALS; STIMULATION; QUESTIONS; AGREEMENT; RESPONSES; TIME AB Many researchers have proposed that challenging behaviors emitted by individuals with Autism Spectrum Disorder are related to abnormal physiological arousal. It has been suggested that behaviors such as stereotypy and self-injury function to regulate arousal and to reduce the discomfort associated with hypo- or hyper-arousal. Little empirical research has tested these theories. The current study investigated heart rate during challenging behavior in three children diagnosed with Autism Spectrum Disorder. Heart rate before, during, and after challenging behaviors was analysed. Specific heart rate patterns were found to co-occur with challenging behaviors. Abnormal heart rate responses to stressors were also noted. These findings offer little support for the arousal modulation theories of challenging behavior. We suggest that, for some individuals with Autism Spectrum Disorder, these behaviors serve to increase arousal and to allow, or sustain, access to a preferred state of heightened arousal. These findings, which are not wholly in line with previous research, may have implications for the assessment and treatment of challenging behavior. C1 [Lydon, Sinead; Healy, Olive; Dwyer, Martina] Natl Univ Ireland Galway, Sch Psychol, Galway, Ireland. RP Healy, O (reprint author), Natl Univ Ireland Galway, Sch Psychol, Univ Rd, Galway, Ireland. 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PD FEB PY 2013 VL 25 IS 1 SI SI BP 149 EP 170 DI 10.1007/s10882-012-9324-y PG 22 WC Rehabilitation SC Rehabilitation GA 084JC UT WOS:000314534100012 ER PT J AU Weischenfeldt, J Symmons, O Spitz, F Korbel, JO AF Weischenfeldt, Joachim Symmons, Orsolya Spitz, Francois Korbel, Jan O. TI Phenotypic impact of genomic structural variation: insights from and for human disease SO NATURE REVIEWS GENETICS LA English DT Review ID COPY NUMBER VARIATION; THUMB-POLYSYNDACTYLY SYNDROME; AUTISM SPECTRUM DISORDERS; 22Q11.2 DELETION SYNDROME; DOWN-SYNDROME PHENOTYPES; PLURIPOTENT STEM-CELLS; SMITH-MAGENIS-SYNDROME; DE-NOVO CNVS; GENE-EXPRESSION; LONG-RANGE AB Genomic structural variants have long been implicated in phenotypic diversity and human disease, but dissecting the mechanisms by which they exert their functional impact has proven elusive. Recently however, developments in high-throughput DNA sequencing and chromosomal engineering technology have facilitated the analysis of structural variants in human populations and model systems in unprecedented detail. In this Review, we describe how structural variants can affect molecular and cellular processes, leading to complex organismal phenotypes, including human disease. We further present advances in delineating disease-causing elements that are affected by structural variants, and we discuss future directions for research on the functional consequences of structural variants. C1 [Weischenfeldt, Joachim; Korbel, Jan O.] European Mol Biol Lab, Genome Biol Unit, D-69117 Heidelberg, Germany. [Symmons, Orsolya; Spitz, Francois] European Mol Biol Lab, Dev Biol Unit, D-69117 Heidelberg, Germany. RP Spitz, F (reprint author), European Mol Biol Lab, Genome Biol Unit, Meyerhofstr 1, D-69117 Heidelberg, Germany. EM spitz@embl.de; korbel@embl.de RI sebastianovitsch, stepan/G-8507-2013; Korbel, Jan/G-6470-2012 OI Korbel, Jan/0000-0002-2798-3794 FU Emmy Noether Fellowship from the German Research Foundation (Deutsche Forschungsgemeinschaft); Louis-Jeantet Foundation FX We thank R. Weatheritt for critical discussion of the manuscript. We apologize to all colleagues whose contributions could not be cited or highlighted owing to space limitations. J.O.K. was supported by an Emmy Noether Fellowship from the German Research Foundation (Deutsche Forschungsgemeinschaft). O.S. was supported by the Louis-Jeantet Foundation. 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E. de Kovel, C. G. F. Gunning, W. B. van Daalen, E. de Jonge, M. V. Jansen, A. C. Vermeulen, R. J. Arts, W. F. M. Verhelst, H. Fogarasi, A. de Rijk-van Andel, J. F. Kelemen, A. Lindhout, D. De Jonghe, P. Koeleman, B. P. C. Suls, A. Brilstra, E. H. TI Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders SO NEUROGENETICS LA English DT Article DE PCDH19; Epilepsy; X-linked; Genetics; Autism spectrum disorder ID SEVERE MYOCLONIC EPILEPSY; PROTOCADHERIN 19 MUTATIONS; MENTAL-RETARDATION; DRAVET-SYNDROME; DE-NOVO; CONVULSIVE DISORDER; SCN1A MUTATIONS; ONSET EPILEPSY; FAMILIAL FORM; FEMALES AB Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have no seizures, but are reported to have rigid personalities suggesting possible autism spectrum disorders (ASD). Therefore, this study aimed to determine the phenotypic spectrum associated with PCDH19 mutations in Dravet-like and EFMR female patients and in males with ASD. We screened 120 females suffering from Dravet-like epilepsy, 136 females with EFMR features and 20 males with ASD. Phenotypes and genotypes of the PCDH19 mutation carriers were compared with those of 125 females with EFMR reported in the literature. We report 15 additional patients with a PCDH19 mutation. Review of clinical data of all reported patients showed that the clinical picture of EFMR is heterogeneous, but epilepsy onset in infancy, fever sensitivity and occurrence of seizures in clusters are key features. Seizures remit in the majority of patients during teenage years. Intellectual disability and behavioural disturbances are common. Fifty percent of all mutations are missense mutations, located in the extracellular domains only. Truncating mutations have been identified in all protein domains. One ASD proband carried one missense mutation predicted to have a deleterious effect, suggesting that ASD in males can be associated with PCDH19 mutations. C1 [van Harssel, J. J. T.; van Kempen, M. J. A.; Verbeek, N. E.; de Kovel, C. G. F.; Lindhout, D.; Koeleman, B. P. C.; Brilstra, E. H.] Univ Med Ctr Utrecht, Dept Med Genet, NL-3508 AB Utrecht, Netherlands. [Weckhuysen, S.; Hardies, K.; De Jonghe, P.; Suls, A.] VIB, Dept Mol Genet, Neurogenet Grp, Antwerp, Belgium. [Weckhuysen, S.; Hardies, K.; De Jonghe, P.; Suls, A.] Univ Antwerp, Inst Born Bunge, Neurogenet Lab, B-2020 Antwerp, Belgium. [Weckhuysen, S.] Epilepsy Ctr Kempenhaeghe, Oosterhout, Netherlands. [Gunning, W. B.] Netherlands Fdn SEIN, Epilepsy Inst, Zwolle, Netherlands. [van Daalen, E.; de Jonge, M. V.] Univ Med Ctr Utrecht, Dept Child & Adolescent Psychiat, NL-3508 AB Utrecht, Netherlands. [Jansen, A. C.] UZ Brussel, Dept Pediat, Pediat Neurol Unit, Brussels, Belgium. [Jansen, A. C.] Vrije Univ Brussel, Dept Publ Hlth, Brussels, Belgium. [Vermeulen, R. J.] Vrije Univ Amsterdam Med Ctr, Dept Pediat Neurol, Amsterdam, Netherlands. [Arts, W. F. M.] Sophia Childrens Univ Hosp, Erasmus Med Ctr, Dept Neurol, Rotterdam, Netherlands. [Verhelst, H.] Ghent Univ Hosp, Div Pediat Neurol, Dept Pediat, Ghent, Belgium. [Fogarasi, A.] Bethesda Childrens Hosp, Epilepsy Ctr, Budapest, Hungary. [de Rijk-van Andel, J. F.] Amphia Hosp, Dept Neurol, Breda, Netherlands. [Kelemen, A.] Natl Inst Neurosci, Epilepsy Ctr, Budapest, Hungary. [Lindhout, D.] Netherlands Fdn, SEIN Epilepsy Inst, Hoofddorp, Netherlands. [De Jonghe, P.] Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium. RP Brilstra, EH (reprint author), Univ Med Ctr Utrecht, Dept Med Genet, POB 85090, NL-3508 AB Utrecht, Netherlands. EM e.h.brilstra@umcutrecht.nl RI Jansen, Anna/P-3121-2014 FU Flemish Government, University of Antwerp, the Interuniversity Attraction Poles program of the Belgian Science Policy Office [P6/43]; Eurocores program EuroEPINOMICS of the European Science Foundation FX We thank the patients and their family members for their cooperation and participation in this study. We also thank the VIB Genetic Service Facility (http://www.vibgeneticservicefacility.be) for the genetic analyses. The research is supported by the Fund for Scientific Research Flanders (FWO), Methusalem excellence grant of the Flemish Government, University of Antwerp, the Interuniversity Attraction Poles program P6/43 of the Belgian Science Policy Office, the Eurocores program EuroEPINOMICS of the European Science Foundation. A.S. is a postdoctoral fellow of the Fund for Scientific Research Flanders (FWO). 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In this paper, we have reported the synthesis of a novel derivative of 1-(2-methoxyphenyl) piperazine that is labeled with Tc-99m (CO)(3) via click chemistry. Methods: The bidentate alkyne, propargylglycine was reacted with phenyl piperazine triazole derivative in the presence of a catalytic amount of Cu (I) to form tridentate ligand. The ligand was radiolabeled with the precursor [Tc-99m] [(H2O)(3) (CO)(3)](+) and characterized by HPLC. The bioevaluation of radio labeled ligand was carried out in rats. Results: Triazole complex was labeled by Tc-99m-tricarbonyl and its radiochemical yield was more than >95% which was determined by HPLC. In vivo stability studies in human serum albumin show a 93% ratio of complex after a 24 h period. The calculated partition coefficient (logP) was 0.34+/-0.02. Receptor binding assays indicated about 70% specific binding of radioligand to 5-HT1A receptors. Biodistribution studies have shown brain hippocampus uptake of 0.40+/-0.08 %ID/g at 30 min post injection. Conclusions: Results indicate that this Tc-99m-tricabonyl-arylpiperazine derivative has specific binding to 5-HT1A receptors and presented suitable characters for its use as a CNS imaging agent. (C) 2013 Elsevier Inc. All rights reserved. C1 [Hassanzadeh, Leila; Amini, Mohsen; Shafiee, Abbass; Ebrahimi, Seyed Esmaeil Sadat] Univ Tehran Med Sci, Dept Med Chem, Fac Pharm, Tehran, Iran. [Erfani, Mostafa; Najafi, Reza; Shafiei, Mohammad] Atom Energy Org Iran, Nucl Sci Res Sch, Nucl Sci & Technol Res Inst, Tehran, Iran. RP Ebrahimi, SES (reprint author), Univ Tehran Med Sci, Dept Med Chem, Fac Pharm, Tehran, Iran. 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This article reviews this progress, including recent innovations, focussing on those instruments for which the strongest research data on validity exists, and then addresses issues arising from their use in clinical settings. Findings Research studies have evaluated the ability of screens to prospectively identify cases of ASD in population-based and clinically referred samples, as well as the accuracy of diagnostic instruments to map onto gold standard clinical best estimate diagnosis. However, extension of the findings to clinical services must be done with caution, with a full understanding that instrument properties are sample-specific. Furthermore, we are limited by the lack of a true test for ASD which remains a behaviourally defined disorder. In addition, screening and diagnostic instruments help clinicians least in the cases where they are most in want of direction, as their accuracy will always be lower for marginal cases. Conclusion Instruments help clinicians to collect detailed, structured information and increase accuracy and reliability of referral for in-depth assessment and recommendations for support, but further research is needed to refine their effective use in clinical settings. C1 [Charman, Tony; Gotham, Katherine] Kings Coll London, Inst Psychiat, London, England. RP Charman, T (reprint author), Kings Coll London, Inst Psychiat, London, England. RI Charman, Tony/A-2085-2014 OI Charman, Tony/0000-0003-1993-6549 FU COST Action [BM1004]; Clothworkers' Foundation; Pears Foundation; United States National Institute of Health [R01HD065277, R01 MH066469]; Autism Speaks Predoctoral Training Fellowship FX The work of TC on screening is supported by the COST Action BM1004. Research at the Centre for Research in Autism and Education (CRAE) is supported by the Clothworkers' Foundation and Pears Foundation. The work of KG on diagnostic instruments has been supported by United States National Institute of Health grants R01HD065277 (PI: Somer Bishop), R01 MH066469 (PI: Catherine Lord) and an Autism Speaks Predoctoral Training Fellowship. 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TI Latent class analysis reveals five homogeneous behavioural and developmental profiles in a large Dutch population sample of infants aged 14-15 months SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY LA English DT Article DE Exploratory factor analysis; Latent class analysis; Behavioural and developmental profiles and problems; Infants; General population ID AUTISM SPECTRUM DISORDERS; TRAITS QUESTIONNAIRE ESAT; PRESCHOOL-CHILDREN; EARLY-CHILDHOOD; PSYCHOPATHOLOGY; CLASSIFICATION; RELIABILITY; PREDICTORS; PATHWAYS; LANGUAGE AB Precursors of child psychiatric disorders are often present in infancy, but little is known about the prevalence and course of general psychopathology in population-based samples of children 0-3 years. We examined whether homogeneous behavioural and developmental profiles could be identified in children aged 14-15 months (M = 14.84; SD = 2.19), and we explored whether or not these profiles corresponded with existing classifications of DSM-IV-TR, ICD-10, and DC 0-3R. Parents of 6,330 children answered 74 items about externalizing, internalizing, and social-communicative behaviour. Exploratory factor analysis revealed nine factors: deviant communication, negative emotionality, deviant reactive behaviour, deviant play behaviour, demanding behaviour, social anxiety/inhibition, advanced social interaction problems, basic social interaction problems, and sleep problems. Latent class analysis yielded five profiles, of which three were associated with increased behavioural and developmental problems. Some infants (5.7 %) had communication and social interaction problems corresponding to multisystem developmental disorders (DC 0-3R) and suggestive of anxiety, mood, or pervasive developmental disorders (DSM-IV-TR, ICD-10). Other infants (16.4 %) had communication problems, possibly precursors of communication, language, or speech disorders (DSM-IV-TR, ICD-10). Yet other infants (10.8 %) showed negative and demanding behaviour suggestive of regulation disorders (DC 0-3R), attention-deficit and disruptive behaviour disorders (DSM-IV-TR), or hyperkinetic and conduct disorders (ICD-10). Thus, even in infancy certain distinct behavioural and developmental profiles can be recognized. This combined approach will enable follow-up research into the stability of factors, classes, and profiles over time, and will facilitate early detection, diagnosis, and treatment of behavioural and developmental problems. C1 [Moricke, Esme; Lappenschaar, G. A. Martijn; Swinkels, Sophie H. N.; Rommelse, Nanda N. J.] Radboud Univ Nijmegen, Med Ctr, Dept Psychiat 966, Nijmegen Ctr Evidence Based Practice, NL-6500 HB Nijmegen, Netherlands. [Rommelse, Nanda N. J.; Buitelaar, Jan K.] Karakter Child & Adolescent Psychiat Univ Ctr, Nijmegen, Netherlands. [Buitelaar, Jan K.] Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, Donders Inst Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands. RP Moricke, E (reprint author), Radboud Univ Nijmegen, Med Ctr, Dept Psychiat 966, Nijmegen Ctr Evidence Based Practice, POB 9101, NL-6500 HB Nijmegen, Netherlands. EM e.moricke@psy.umcn.nl RI Rommelse, Nanda/D-4872-2009 OI Rommelse, Nanda/0000-0002-1711-0359 FU Dutch Organization for Scientific Research [ZonMw CZ-TT 940-38-045]; University Medical Centre Utrecht, The Netherlands; Radboud University Nijmegen Medical Centre, The Netherlands; Karakter University Centre Nijmegen, The Netherlands FX This research is part of the SOSO project, which is financially supported by the Dutch Organization for Scientific Research (ZonMw CZ-TT 940-38-045 Research Program Chronic Diseases) and by University Medical Centre Utrecht, Radboud University Nijmegen Medical Centre, and Karakter University Centre Nijmegen, The Netherlands. 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Child Adolesc. Psych. PD FEB PY 2013 VL 22 IS 2 BP 103 EP 115 DI 10.1007/s00787-012-0332-3 PG 13 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 082RD UT WOS:000314409100006 PM 23076366 ER PT J AU Lauritsen, MB AF Lauritsen, Marlene Briciet TI Autism spectrum disorders SO EUROPEAN CHILD & ADOLESCENT PSYCHIATRY LA English DT Review DE Autism spectrum disorder; Autism; Diagnosis; DSM; ICD ID ASPERGER-SYNDROME; CHILDREN; IDENTIFICATION; DIAGNOSIS; INFANCY; SIGNS AB The revision of the diagnostic criteria for ASD has been widely anticipated and is expected to be an important contribution to the refinement of the definition of ASD. In the upcoming DSM-5, several changes have been made compared to the previous diagnostic criteria. They include no emphasis on language delay and age of onset except that ASD is defined as a neurodevelopmental disorder with symptoms in early childhood although the disorder may first be diagnosed later in life. The three areas of impairments in ASD are reduced to two areas, namely a social-communication domain and a behavioral domain including fixated interests and repetitive behaviors. In addition, the clinical presentation of ASD in the individual is described in more detail in terms of clinical specifiers. In addition to reporting these changes in the classification, the major international guidelines are introduced and a brief description of good clinical practice of assessment and the overall principles of intervention is provided. C1 Aarhus Univ Hosp, Res Unit Child & Adolescent Psychiat, Aalborg Psychiat Hosp, DK-9000 Aalborg, Denmark. RP Lauritsen, MB (reprint author), Aarhus Univ Hosp, Res Unit Child & Adolescent Psychiat, Aalborg Psychiat Hosp, Mollepk Vej 10, DK-9000 Aalborg, Denmark. 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Child Adolesc. Psych. PD FEB PY 2013 VL 22 SU 1 BP S37 EP S42 DI 10.1007/s00787-012-0359-5 PG 6 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 081IH UT WOS:000314311700007 PM 23300017 ER PT J AU Lindstrom, JH AF Lindstrom, Jennifer H. TI Introduction to the Special Issue: Response to Intervention within the Context of Specific Learning Disabilities, Emotional Disturbance, Autism Spectrum Disorders, and Early Childhood Special Education SO EXCEPTIONALITY LA English DT Article ID RISK C1 Univ Georgia, Athens, GA 30602 USA. RP Lindstrom, JH (reprint author), Univ Georgia, 570 Aderhold Hall, Athens, GA 30602 USA. EM jhl@uga.edu CR Ball CR, 2011, PSYCHOL SCHOOLS, V48, P502, DOI 10.1002/pits.20572 Cheney D, 2008, J SPEC EDUC, V42, P108, DOI 10.1177/0022466907313349 Fairbanks S, 2007, EXCEPT CHILDREN, V73, P288 Gresham F. M., 2008, BEST PRACTICES SCH P, P281 Gresham F. 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TI Considering Identification and Service Provision for Students with Autism Spectrum Disorders within the Context of Response to Intervention SO EXCEPTIONALITY LA English DT Article ID HIGH-FUNCTIONING AUTISM; CHILDREN; PREVENTION; PREVALENCE; MODELS; RTI; CLASSROOMS; DIAGNOSIS; SAMPLE; AGE AB The Response to Intervention (RTI) framework, a preventive model of universal screening, tiered interventions, and ongoing progress monitoring, poses an interesting consideration for identification and service delivery for children with autism spectrum disorders (ASD). Upon examination of the existing literature, paucity exists regarding how RTI might guide identification and service delivery for students with ASD; however, the authors consider core tenets of RTI and how they are relevant for students with ASD given what is known about this unique population. Due to the importance of early identification and interventions for individuals with ASD, the RTI framework could be problematic if used to delay education eligibility. Thus, two routes of identification are outlined by the authors, one of which expedites evaluation based on pervasive symptomatology, while the other route uses a form of universal screening to assist in moving toward evaluation for those suspected of ASD. The use of tiered interventions for prevention or service delivery could cause potential complications given the need for early identification and individualized intensive programming. However, there is a clear match for several instructional RTI components and ASD, specifically for evidence-based interventions that are implemented with fidelity and monitored frequently, and other aspects such as family involvement, which could improve programming for students with ASD. C1 [Hammond, Rachel K.] Univ Kentucky, Sch Psychol Program, Lexington, KY 40506 USA. RP Hammond, RK (reprint author), Univ Kentucky, Sch Psychol Program, 170 G Taylor Educ Bldg, Lexington, KY 40506 USA. 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A., 2010, BEST PRACTICE GUIDE Yeargin-Allsopp M, 2003, JAMA-J AM MED ASSOC, V289, P49, DOI 10.1001/jama.289.1.49 NR 58 TC 0 Z9 0 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND SN 0936-2835 J9 EXCEPTIONALITY JI Exceptionality PD FEB 1 PY 2013 VL 21 IS 1 SI SI BP 34 EP 50 DI 10.1080/09362835.2013.750119 PG 17 WC Education, Special SC Education & Educational Research GA 081UB UT WOS:000314346800004 ER PT J AU Paonessa, F Latifi, S Scarongella, H Cesca, F Benfenati, F AF Paonessa, Francesco Latifi, Shahrzad Scarongella, Helena Cesca, Fabrizia Benfenati, Fabio TI Specificity Protein 1 (Sp1)-dependent Activation of the Synapsin I Gene (SYN1) Is Modulated by RE1-silencing Transcription Factor (REST) and 5 '-Cytosine-Phosphoguanine (CpG) Methylation SO JOURNAL OF BIOLOGICAL CHEMISTRY LA English DT Article ID DNA METHYLATION; TATA-LESS; SYNAPTIC VESICLES; NEURONAL GENES; MOUSE-BRAIN; EXPRESSION; PROMOTER; SP1; REPRESSOR; BINDING AB The development and function of the nervous system are directly dependent on a well defined pattern of gene expression. Indeed, perturbation of transcriptional activity or epigenetic modifications of chromatin can dramatically influence neuronal phenotypes. The phosphoprotein synapsin I (Syn I) plays a crucial role during axonogenesis and synaptogenesis as well as in synaptic transmission and plasticity of mature neurons. Abnormalities in SYN1 gene expression have been linked to important neuropsychiatric disorders, such as epilepsy and autism. SYN1 gene transcription is suppressed in non-neural tissues by the RE1-silencing transcription factor (REST); however, the molecular mechanisms that allow the constitutive expression of this genetic region in neurons have not been clarified yet. Herein we demonstrate that a conserved region of human and mouse SYN1 promoters contains cis-sites for the transcriptional activator Sp1 in close proximity to REST binding motifs. Through a series of functional assays, we demonstrate a physical interaction of Sp1 on the SYN1 promoter and show that REST directly inhibits Sp1-mediated transcription, resulting in SYN1 down-regulation. Upon differentiation of neuroblastoma Neuro2a cells, we observe a decrease in endogenous REST and a higher stability of Sp1 on target GC boxes, resulting in an increase of SYN1 transcription. Moreover, methylation of Sp1 cis-sites in the SYN1 promoter region could provide an additional level of transcriptional regulation. Our results introduce Sp1 as a fundamental activator of basal SYN1 gene expression, whose activity is modulated by the neural master regulator REST and CpG methylation. C1 [Paonessa, Francesco; Latifi, Shahrzad; Scarongella, Helena; Cesca, Fabrizia; Benfenati, Fabio] Ist Italiano Tecnol, Dept Neurosci & Brain Technol, I-16163 Genoa, Italy. RP Benfenati, F (reprint author), Ist Italiano Tecnol, Via Morego 30, I-16163 Genoa, Italy. EM fabio.benfenati@iit.it FU Italian Ministry of University and Research (PRIN); Compagnia di San Paolo, Torino, Italy; Telethon-Italy [GGP09134] FX This study was supported by research grants from the Italian Ministry of University and Research (PRIN) and the Compagnia di San Paolo, Torino, Italy. The support of Telethon-Italy (Grant GGP09134) is also acknowledged. 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We investigated whether expert clinical psychologists and students use new causal information about psychiatric disorders according to rationalist norms in their diagnostic reasoning. Specifically, philosophical and Bayesian analyses suggest that it is rational to draw stronger inferences about the presence of a disorder when a client's presenting symptoms are from disparate locations in a causal theory of the disorder than when they are from proximal locations. Method In a controlled experiment, we presented experienced clinical psychologists and students with recently published causal theories for different disorders; specifically, these theories proposed how the symptoms of each disorder stem from a root cause. Participants viewed hypothetical clients with presenting proximal or diverse symptoms, and indicated either the likelihood that the client has the disorder, or what additional information they would seek out to help inform a diagnostic decision. Results Clinicians and students alike showed a strong preference for diverse evidence, over proximal evidence, in making diagnostic judgments and in seeking additional information. They did not show this preference in the control condition, in which they gave their own opinions prior to learning the causal information. Conclusion These findings suggest that experienced clinical psychologists and students are likely to use newly learned causal knowledge in a normative, rational way in diagnostic reasoning. C1 [de Kwaadsteniet, Leontien] Radboud Univ Nijmegen, NL-6525 HR Nijmegen, Netherlands. [Kim, Nancy S.; Yopchick, Jennelle E.] Northeastern Univ, Dept Psychol, Boston, MA 02115 USA. RP de Kwaadsteniet, L (reprint author), Radboud Univ Nijmegen, Montessorilaan 3, NL-6525 HR Nijmegen, Netherlands. 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TI "Gaze Leading": Initiating Simulated Joint Attention Influences Eye Movements and Choice Behavior SO JOURNAL OF EXPERIMENTAL PSYCHOLOGY-GENERAL LA English DT Article DE joint attention; gaze perception; social cognition; eye tracking; preferences ID VISUAL-ATTENTION; INDIVIDUAL-DIFFERENCES; SOCIAL ATTENTION; SEX-DIFFERENCES; AUTISM; DIRECTION; CHILDREN; FACE; JUDGMENTS; AMYGDALA AB Recent research in adults has made great use of the gaze cuing paradigm to understand the behavior of the follower in joint attention episodes. We implemented a gaze leading task to investigate the initiator the other person in these triadic interactions. In a series of gaze-contingent eye-tracking studies, we show that fixation dwell time upon and reorienting toward a face are affected by whether that individual face shifts its eyes in a congruent or an incongruent direction in response to the participant's eye movement. Gaze leading also biased affective responses toward the faces and attended objects. 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Exp. Psychol.-Gen. PD FEB PY 2013 VL 142 IS 1 BP 76 EP 92 DI 10.1037/a0029286 PG 17 WC Psychology, Experimental SC Psychology GA 079SX UT WOS:000314193600010 PM 22800442 ER PT J AU Flor, J Bellando, J Lopez, M AF Flor, J. Bellando, J. Lopez, M. TI DEVELOPMENTAL FUNCTIONING AND MEDICAL CO-MORBIDITY PROFILE OF CHILDREN WITH COMPLEX AND ESSENTIAL AUTISM SO JOURNAL OF INVESTIGATIVE MEDICINE LA English DT Meeting Abstract CT Southern Regional Meeting of the American-Federation-for-Medical-Research CY FEB 21-23, 2013 CL New Orleans, LA SP Amer Federat Med Res, So Reg C1 [Flor, J.; Bellando, J.; Lopez, M.] Univ Arkansas Med Sci, Little Rock, AR 72205 USA. NR 0 TC 0 Z9 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA 530 WALNUT ST, PHILADELPHIA, PA 19106-3621 USA SN 1081-5589 J9 J INVEST MED JI J. Invest. Med. PD FEB PY 2013 VL 61 IS 2 MA 45 BP 385 EP 386 PG 2 WC Medicine, General & Internal; Medicine, Research & Experimental SC General & Internal Medicine; Research & Experimental Medicine GA 079FO UT WOS:000314156100059 ER PT J AU Sala, M Braida, D Donzelli, A Martucci, R Busnelli, M Bulgheroni, E Rubino, T Parolaro, D Nishimori, K Chini, B AF Sala, M. Braida, D. Donzelli, A. Martucci, R. Busnelli, M. Bulgheroni, E. Rubino, T. Parolaro, D. Nishimori, K. Chini, B. TI Mice Heterozygous for the Oxytocin Receptor Gene (Oxtr(+/-)) Show Impaired Social Behaviour but not Increased Aggression or Cognitive Inflexibility: Evidence of a Selective Haploinsufficiency Gene Effect SO JOURNAL OF NEUROENDOCRINOLOGY LA English DT Article DE behavioural phenotype; oxytocin receptor; selective agonists ID VASOPRESSIN 1B RECEPTOR; KNOCKOUT MOUSE; DEFICITS; ANXIETY; AUTISM; ANTIDEPRESSANTS; SCHIZOPHRENIA; PHARMACOLOGY; RECOGNITION; DISORDERS AB We characterised the behavioural phenotype of mice heterozygous (Oxtr+/-) for the oxytocin receptor gene (Oxtr) and compared it with that of Oxtr null mice (Oxtr-/-), which display autistic-like behaviours, including impaired sociability and preference for social novelty, impaired cognitive flexibility, and increased aggression. Similar to Oxtr-/- mice, the Oxtr+/- showed impaired sociability and preference for social novelty but, unlike the null genotype, their cognitive flexibility and aggression were normal. By autoradiography, Oxtr+/- mice were found to have approximately 50% fewer oxytocin receptors (OXTRs) in all of the examined brain regions. Thus, because a partial reduction in Oxtr gene expression is sufficient to compromise social behaviour, the Oxtr acts as a haploinsufficient gene. Furthermore, the inactivation of the Oxtr gene affects specific behaviours in a dose-dependent manner: social behaviour is sensitive to even a partial reduction in Oxtr gene expression, whereas defects in aggression and cognitive flexibility require the complete inactivation of the Oxtr gene to emerge. We then investigated the rescue of the Oxtr+/- social deficits by oxytocin (OT) and Thr4Gly7OT (TGOT) administered i.c.v. at different doses. TGOT was more potent than OT in rescuing sociability and social novelty in both genotypes. Furthermore, the TGOT doses that reverted impaired sociability and preference for social novelty in Oxtr+/- were lower than those required in Oxtr-/-, thus suggesting that the rescue effect is mediated by OXTR in Oxtr+/- and by other receptors (presumably vasopressin V1a receptors) in Oxtr-/-. In line with this, a low dose of the selective oxytocin antagonist desGlyDTyrOVT blocks the rescue effect of TGOT only in the Oxtr+/- genotype, whereas the less selective antagonist SR49059 blocks rescue in both genotypes. In conclusion, the Oxtr+/- mouse is a unique animal model for investigating how partial loss of the Oxtr gene impair social interactions, and for designing pharmacological rescue strategies. C1 [Sala, M.; Braida, D.; Donzelli, A.; Martucci, R.; Busnelli, M.; Chini, B.] Univ Milan, Dipartimento Biotecnol Med & Med Traslaz, Milan, Italy. [Sala, M.; Busnelli, M.; Bulgheroni, E.; Chini, B.] CNR, Inst Neurosci, I-20129 Milan, Italy. [Rubino, T.; Parolaro, D.] Univ Insubria, DBSF, Busto Arsizio, Varese, Italy. [Nishimori, K.] Tohoku Univ, Dept Mol & Cell Biol, Grad Sch Agr Sci, Sendai, Miyagi 980, Japan. RP Chini, B (reprint author), CNR, Inst Neurosci, Via Vanvitelli 32, I-20129 Milan, Italy. EM b.chini@in.cnr.it FU Cariplo Foundation [2008.2314]; Regione Lombardia [16983 - Rif. SAL-50]; PNR-CNR Aging program FX The present study was supported by the Cariplo Foundation (Grant 2008.2314 to B. C. and M. S.), the Regione Lombardia (Progetto TerDisMental, ID 16983 - Rif. SAL-50 to B. C.) and the PNR-CNR Aging program (Grant 2012-2014). The authors declare that there are no conflicts of interest. 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Neuroendocrinol. PD FEB PY 2013 VL 25 IS 2 BP 107 EP 118 DI 10.1111/j.1365-2826.2012.02385.x PG 12 WC Endocrinology & Metabolism; Neurosciences SC Endocrinology & Metabolism; Neurosciences & Neurology GA 078BF UT WOS:000314072400002 PM 22967062 ER PT J AU Domes, G Hollerbach, P Vohs, K Mokros, A Habermeyer, E AF Domes, Gregor Hollerbach, Pia Vohs, Knut Mokros, Andreas Habermeyer, Elmar TI EMOTIONAL EMPATHY AND PSYCHOPATHY IN OFFENDERS: AN EXPERIMENTAL STUDY SO JOURNAL OF PERSONALITY DISORDERS LA English DT Article ID ANTISOCIAL PERSONALITY-DISORDERS; FACIAL AFFECT RECOGNITION; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; SOCIAL DESIRABILITY; SEXUAL OFFENDERS; MIND; DEFICITS; ADULTS; EYES AB Previous studies associated psychopathy in adults with deficits in empathy but these studies did not directly compare cognitive and emotional facets of empathy. The present study sought to establish whether psychopathy is associated with impairments in emotional empathy among adult offenders. Participants were 90 male offenders scoring low (n = 29), medium (n = 33) or high (n = 28) on the Psychopathy Checklist-Revised (PCL-R) and n = 28 male noncriminal controls. Empathy functioning was assessed through self-report and computerized decision tasks, differentiating between perspective-taking (cognitive empathy) and compassion (emotional empathy). Against expectations, level of psychopathy among the offenders was not associated with either emotional or cognitive empathy. Offenders however had lower scores for both cognitive and emotional components of empathy functioning than controls. Both facets of empathy showed small but significant positive correlations with education level and social desirability. The methods employed to assess differences in empathy functioning may not be sensitive enough to assess differences in forensic samples. C1 [Domes, Gregor; Hollerbach, Pia] Univ Freiburg, D-79104 Freiburg, Germany. 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Pers. Disord. PD FEB PY 2013 VL 27 IS 1 SI SI BP 67 EP 84 PG 18 WC Psychiatry SC Psychiatry GA 082EX UT WOS:000314376200006 PM 23342958 ER PT J AU Storch, EA Arnold, EB Lewin, AB Nadeau, JM Jones, AM De Nadai, AS Mutch, PJ Selles, RR Ung, D Murphy, TK AF Storch, Eric A. Arnold, Elysse B. Lewin, Adam B. Nadeau, Josh M. Jones, Anna M. De Nadai, Alessandro S. Mutch, P. Jane Selles, Robert R. Ung, Danielle Murphy, Tanya K. TI The Effect of Cognitive-Behavioral Therapy Versus Treatment as Usual for Anxiety in Children With Autism Spectrum Disorders: A Randomized, Controlled Trial SO JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY LA English DT Article DE autism spectrum disorders; anxiety; cognitive-behavioral therapy; treatment ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; SYMPTOMS; FAMILY; YOUTH; RELIABILITY; ADOLESCENTS; SKILLS; RATES AB Objective: To examine the efficacy of a modular cognitive-behavioral therapy (CBT) protocol relative to treatment as usual (TAU) among children with high-functioning autism spectrum disorders (ASD) and clinically significant anxiety Method: A total of 45 children (7-11 years of age) with high-functioning ASD and clinically significant anxiety were randomized to receive 16 sessions of weekly CBT or TAU for an equivalent duration. After screening, assessments were conducted at baseline, post-treatment, and 3-month follow-up. Raters were blind to treatment condition. Results: Youth receiving CBT showed substantial improvement relative to TAU on primary anxiety outcomes. Of 24 children randomized to the CBT arm, 18 (75%) were treatment responders, versus only 3 of 21 children (14%) in the TAU arm. Gains were generally maintained at 3-month follow-up for CBT responders. Conclusions: Relative to usual care, CBT adapted for anxious youth with high-functioning ASD demonstrates large effects in reducing anxiety symptoms. This study contributes to the growing literature supporting adapted CBT approaches for treating anxiety in youth with ASD. Clinical trial registration information Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders; http://clinicaltrials.gov; NCT01178385. J. Am. Acad. Child Adolesc. Psychiatry; 2013;52(2):132-144. C1 [Storch, Eric A.; Arnold, Elysse B.; Lewin, Adam B.; Nadeau, Josh M.; De Nadai, Alessandro S.; Mutch, P. Jane; Selles, Robert R.; Ung, Danielle; Murphy, Tanya K.] Univ S Florida, St Petersburg, FL 33701 USA. [Jones, Anna M.] Univ Georgia, Athens, GA 30602 USA. RP Storch, EA (reprint author), Univ S Florida, Dept Pediat, Rothman Ctr Neuropsychiat, Box 7523,880 6th St S, St Petersburg, FL 33701 USA. RI Murphy, Tanya/J-7079-2013; Nadeau, Joshua/F-1462-2015 OI Nadeau, Joshua/0000-0002-9886-4709 FU All Children's Hospital Research Foundation; University of South Florida Internal Grants Program; National Institutes of Health (NIH); Centers for Disease Control (CDC); Agency for Healthcare Research and Quality; National Alliance for Research on Schizophrenia and Affective Disorders (NARSAD); International Obsessive-Compulsive Disorder Foundation (IOCDF); Tourette Syndrome Association; Janssen Pharmaceuticals; All Children's Hospital Guild Endowed Chair; NIH; NARSAD; CDC; IOCDF; Forest Laboratories; Shire; Transcept Pharmaceuticals, Inc.; Maurice and Thelma Rothman Endowed Chair FX This work was supported, by grants from the All Children's Hospital Research Foundation and the University of South Florida Internal Grants Program (E.A.S.)Dr Storch has received grant funding from the National Institutes of Health (NIH), Centers for Disease Control (CDC), the Agency for Healthcare Research and Quality, the National Alliance for Research on Schizophrenia and Affective Disorders (NARSAD), the International Obsessive-Compulsive Disorder Foundation (IOCDF), the Tourette Syndrome Association, and Janssen Pharmaceuticals. He has received textbook honoraria from Springer publishers, the American Psychological Association, and Lawrence Erlbaum. He has served as an educational consultant for Rogers Memorial Hospital. He has served as a consultant for Prophase, Inc., and CroNos, Inc., and has served on the speakers' bureau and scientific advisory board for IOCDF. He has received research support from the All Children's Hospital Guild Endowed Chair. Dr. Lewin has received grant funding from NIH, the Agency for Healthcare Research and Quality, CDC, NARSAD, and IOCDF. He has served as a consultant for Prophase, Inc. Dr. Murphy has received research support from NIH, Forest Laboratories, Janssen Pharmaceuticals, the IOCDF, the Tourette Syndrome Association, CDC, Shire, Transcept Pharmaceuticals, Inc., and NARSAD. She has served on the Medical Advisory Board for the Tourette Syndrome Association and on the Scientific Advisory Board for IOCDF. She has received textbook honorarium from Lawrence Erlbaum, and research support from the Maurice and Thelma Rothman Endowed Chair Dr. Mulch, Ms. Arnold, Mr. Nadeau, Ms. Jones, Mr. De Nadai, Mr. Selles, and Ms. Ung report no biomedical, financial interests or potential conflicts of interest. 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PD FEB PY 2013 VL 52 IS 2 BP 132 EP 142 DI 10.1016/j.jaac.2012.11.007 PG 11 WC Psychology, Developmental; Pediatrics; Psychiatry SC Psychology; Pediatrics; Psychiatry GA 082YN UT WOS:000314430000005 PM 23357440 ER PT J AU Yim, SV Kim, SK Park, HJ Jeon, HS Jo, BC Kang, WS Lee, SM Kim, JW Chung, JH AF Yim, Sung-Vin Kim, Su Kang Park, Hae Jeong Jeon, Hye Sook Jo, Byung Chul Kang, Won Sub Lee, Sang Min Kim, Jong Woo Chung, Joo-Ho TI Assessment of the correlation between TIMP4 SNPs and schizophrenia and autism spectrum disorders SO MOLECULAR MEDICINE REPORTS LA English DT Article DE tissue inhibitor of metalloproteinase 4; OPCRIT; schizophrenia; autism spectrum disorders; single nucleotide polymorphism; Korean ID CORONARY-ARTERY LESIONS; MATRIX METALLOPROTEINASES; TISSUE INHIBITOR; KAWASAKI-DISEASE; POLYMORPHISMS; ASSOCIATION; SUSCEPTIBILITY; ABNORMALITIES; EXPRESSION; CANCER AB Tissue inhibitors of metalloproteinases (TIMPs) are involved in synaptic plasticity, neuronal cell differentiation and neuroprotection in the central nervous system. To investigate whether TIMP4 polymorphisms are associated with schizophrenia and autism spectrum disorders (ASDs), 480 patients (schizophrenia, n=287; ASDs, n=193) and 296 controls were enrolled. Clinical symptoms of schizophrenia and ASDs were assessed using the operation criteria checklist for psychotic illness (OPCRIT) and Childhood Autism Rating Scale (CARS), respectively. One promoter single nucleotide polymorphism (SNP; rs3755724, -55C/T) and one exonic SNP (rs17035945, 3'-untranslated region) were selected. SNPStats and SNPAnalyzer Pro programs were used to calculate odds ratios. Multiple logistic regression models were performed to analyze the genetic data. Based on the results, these two SNPs were not associated with schizophrenia and ASD. In the analysis of clinical features of schizophrenia, rs3755724 was nominally associated with schizophrenia with poor concentration (P=0.044 in the codominant2 model, P=0.041 in the log-additive model and P=0.043 in allele frequency). These results suggest that TIMP4 is not associated with the development of schizophrenia and ASD in the population studied. C1 [Yim, Sung-Vin] Kyung Hee Univ, Dept Clin Pharmacol, Sch Med, Seoul 130702, South Korea. [Kim, Su Kang; Park, Hae Jeong; Jeon, Hye Sook; Jo, Byung Chul; Chung, Joo-Ho] Kyung Hee Univ, Dept Pharmacol, Sch Med, Kohwang Med Res Inst, Seoul 130702, South Korea. [Kang, Won Sub; Lee, Sang Min; Kim, Jong Woo] Kyung Hee Univ, Dept Neuropsychiat, Sch Med, Seoul 130702, South Korea. RP Kim, JW (reprint author), Kyung Hee Univ, Dept Neuropsychiat, Sch Med, 1 Hoegi Dong, Seoul 130702, South Korea. EM psyjong@gmail.com; jhchung@khu.ac.kr FU Kyung Hee University [KHU-20071484] FX This study was supported by a grant from the Kyung Hee University (KHU-20071484). 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J.F.K. was supported by the National Institutes of Health under Ruth L. Kirschstein National Research Service Award (F31 NS055549-03) from the National Institute of Neurological Disorders and Stroke. Financial support was provided by a US National Institutes of Health Director's Pioneer Award and a Simons Foundation Grant to R.E.D.; the International Brain Research Organization Outstanding Research Fellowship and the Tashia and John Morgridge Endowed Fellowship to S.P.P.; a Japan Society of the Promotion for Science Postdoctoral Fellowship for Research Abroad and American Heart Association Western States to MY.; and a California Institute for Regenerative Medicine Postdoctoral Fellowship to O.S. We are grateful for funding from B. and F. Horowitz, M. McCafferey, B. and J. Packard, P. Kwan and K. Wang. 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This work was supported by a T32 Postdoctoral Training Grant on Fundamental and Translational Neuroscience (S.W.C.C., 2T32NS051156-06), a Ruth K. Broad Biomedical Foundation Postdoctoral Grant (S.W.C.C.), a Canadian Institutes of Health Research Doctoral research award (J.-F.G., 84765), the National Institute of Mental Health (M.L.P. and S.W.C.C., MH095894) and the Department of Defense (M.L.P. and S.W.C.C., W81XVVH-11-1-0584). 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Kroemer, Heyo Rosskopf, Dieter TI Associations between the oxytocin receptor gene (OXTR) and "mind-reading" in humans-An exploratory study SO NORDIC JOURNAL OF PSYCHIATRY LA English DT Article DE Association study; Mind-reading; OXTR; Oxytocin ID ASPERGER-SYNDROME; CANDIDATE GENES; SEX-DIFFERENCES; AUTISM; BEHAVIOR; EMPATHY; INTELLIGENCE; POLYMORPHISM; VASOPRESSIN; EXPRESSION AB Lucht MJ, Barnow S, Sonnenfeld C, Ulrich I, Grabe HJ, Schroeder W, Volzke H, Freyberger, John U, Herrmann FH, Kroemer H, Rosskopf D. Associations between the oxytocin receptor gene (OXTR) and "mind-reading" in humans-An exploratory study. Nord J Psychiatry 2013;67:15-21. Background/aims: The application of intranasal oxytocin enhances facial emotion recognition in normal subjects and in subjects with autism spectrum disorders (ASD). In addition, various features of social cognition have been associated with variants of the oxytocin receptor gene (OXTR). Therefore, we tested for associations between mind-reading, a measure for social recognition and OXTR polymorphisms. Methods: 76 healthy adolescents and young adults were tested for associations between OXTR rs53576, rs2254298, rs2228485 and mind-reading using the "Reading the Mind in the Eyes Test" (RMET). Results: After Bonferroni correction for multiple comparisons, rs2228485 was associated with the number of incorrect answers when subjects evaluated male faces (P = 0.000639). There were also associations between OXTR rs53576, rs2254298 and rs2228485 and other RMET dimensions according to P < 0.05 (uncorrected). Conclusion: This study adds further evidence to the hypothesis that genetic variations in the OXTR modulate mind-reading and social behaviour. C1 [Lucht, Michael J.] Ernst Moritz Arndt Univ Greifswald, Hosp Psychiat & Psychotherapy, HELIOS Hanseklinikum Stralsund, D-18437 Stralsund, Germany. [Barnow, Sven; Ulrich, Ines] Heidelberg Univ, Inst Psychol, Dept Clin Psychol, Heidelberg, Germany. [Sonnenfeld, Christine; Kroemer, Heyo; Rosskopf, Dieter] Ernst Moritz Arndt Univ Greifswald, Inst Pharmacol, D-18437 Stralsund, Germany. [Grabe, Hans Joergen; Freyberger, Harald J.] Ernst Moritz Arndt Univ Greifswald, Dept Psychiat & Psychotherapy, D-18437 Stralsund, Germany. [Schroeder, Winnie; Herrmann, Falko H.] Ernst Moritz Arndt Univ Greifswald, Inst Human Genet, D-18437 Stralsund, Germany. [Voelzke, Henry] Ernst Moritz Arndt Univ Greifswald, Inst Community Med, D-18437 Stralsund, Germany. [John, Ulrich] Ernst Moritz Arndt Univ Greifswald, Inst Epidemiol & Social Med, D-18437 Stralsund, Germany. RP Lucht, MJ (reprint author), Ernst Moritz Arndt Univ Greifswald, Hosp Psychiat & Psychotherapy, HELIOS Hanseklinikum Stralsund, Rostocker Chaussee 70, D-18437 Stralsund, Germany. EM lucht@uni-greifswald.de FU Federal Ministry of Education and Research [ZZ9603]; Ministry of Cultural affairs; Social Ministry of the Federal State of Mecklenburg-West Pomerania FX This work is part of the Community Medicine research net (CMR) of the University of Greifswald, Germany, which is funded by the Federal Ministry of Education and Research (grant ZZ9603), the Ministry of Cultural affairs and the Social Ministry of the Federal State of Mecklenburg-West Pomerania. 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J. Psychiatr. PD FEB PY 2013 VL 67 IS 1 BP 15 EP 21 DI 10.3109/08039488.2012.700731 PG 7 WC Psychiatry SC Psychiatry GA 077YW UT WOS:000314066300004 PM 22809402 ER PT J AU Treasure, J AF Treasure, Janet TI Coherence and other autistic spectrum traits and eating disorders: Building from mechanism to treatment. The Birgit Olsson lecture SO NORDIC JOURNAL OF PSYCHIATRY LA English DT Article DE Anorexia nervosa; Asperger; Autism; Autism spectrum disorder; Bulimia nervosa; Eating disorder ID RECOVERED ANOREXIA-NERVOSA; EXECUTIVE FUNCTIONS; ASPERGER-SYNDROME; BULIMIA-NERVOSA; RISK-FACTORS; CASE-SERIES; ONSET; MIND; ENDOPHENOTYPES; PERSONALITY AB Treasure J. Coherence and other autistic spectrum traits and eating disorders: Building from mechanism to treatment. The Birgit Olsson lecture. Nord J Psychiatry 2013;67:38-42. Aim: To revisit Gillberg's hypothesis proposed in 1992, which was that anorexia nervosa should be considered within the spectrum of autistic disorders. Method: A search was made of the literature relating to the behavioural traits, and cognitive, emotional and neuroanatomical intermediate phenotypes that are shared between autistic spectrum disorders (ASD) and anorexia nervosa. Results: People with eating disorders in the acute phase (less so after recovery) share some behavioural traits (social impairment and restricted and repetitive behaviours) and intermediate phenotypes (weak central coherence, and impaired set shifting and theory of mind) with people in the autistic spectrum. Conclusion: Behavioural and intermediate neuropsychological traits are shared between eating disorders and ASD. In part, these are familial but also they are accentuated by the illness state and may be secondary to starvation. These traits have implications for prognosis and treatment. C1 Kings Coll London, Inst Psychiat, Dept Acad Psychiat, London SE5 7 ND, England. RP Treasure, J (reprint author), Kings Coll London, Inst Psychiat, Dept Acad Psychiat, PO54,Denmark Hill, London SE5 7 ND, England. EM Janet.Treasure@kcl.ac.uk FU National Institute for Health Research (NIHR) under its Research for Patient Benefit (RfPB) Programme [PB-PG-0609-19025] FX This review presents independent research funded by the National Institute for Health Research (NIHR) under its Research for Patient Benefit (RfPB) Programme (Grant Reference Number PB-PG-0609-19025). The views expressed are those of the author and not necessarily those of the NHS, the NIHR or the Department of Health. 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J. Psychiatr. PD FEB PY 2013 VL 67 IS 1 BP 38 EP 42 DI 10.3109/08039488.2012.674554 PG 5 WC Psychiatry SC Psychiatry GA 077YW UT WOS:000314066300007 PM 22468644 ER PT J AU Weisenfeld, NI Peters, JM Tsai, PT Prabhu, SP Dies, KA Sahin, M Warfield, SK AF Weisenfeld, Neil I. Peters, Jurriaan M. Tsai, Peter T. Prabhu, Sanjay P. Dies, Kira A. Sahin, Mustafa Warfield, Simon K. TI A Magnetic Resonance Imaging Study of Cerebellar Volume in Tuberous Sclerosis Complex SO PEDIATRIC NEUROLOGY LA English DT Article ID AUTISM SPECTRUM DISORDERS; CONSENSUS CONFERENCE; MUTATIONAL ANALYSIS; TSC1; PERFORMANCE; SEGMENTATION; PHENOTYPE; CHILDREN; ABNORMALITIES; VALIDATION AB The cerebellum plays an important role in motor learning and cognition, and structural cerebellar abnormalities have been associated with cognitive impairment. In tuberous sclerosis complex, neurologic outcome is highly variable, and no consistent imaging or pathologic determinant of cognition has been firmly established. The cerebellum calls for specific attention because mouse models of tuberous sclerosis complex have demonstrated a loss of cerebellar Purkinje cells, and cases of human histologic data have demonstrated a similar loss in patients. We hypothesized that there might be a common cerebellar finding in tuberous sclerosis complex that could be measured as morphometric changes with magnetic resonance imaging. Using a robust, automated image analysis procedure, we studied 36 patients with tuberous sclerosis complex and age-matched control subjects and observed significant volume loss among patients in the cerebellar cortices and vermis. Furthermore, this effect was strongest in a subgroup of 19 patients with a known, pathogenic mutation of the tuberous sclerosis 2 gene and impacted all cerebellar structures. We conclude that patients with tuberous sclerosis complex exhibit volume loss in the cerebellum, and this loss is larger and more widespread in patients with a tuberous sclerosis 2 mutation. (C) 2013 Elsevier Inc. All rights reserved. C1 [Weisenfeld, Neil I.; Peters, Jurriaan M.; Prabhu, Sanjay P.; Warfield, Simon K.] Harvard Univ, Childrens Hosp Boston, Sch Med, Dept Radiol, Boston, MA 02115 USA. [Peters, Jurriaan M.; Tsai, Peter T.; Dies, Kira A.; Sahin, Mustafa] Harvard Univ, Childrens Hosp Boston, Sch Med, Dept Neurol, Boston, MA 02115 USA. RP Weisenfeld, NI (reprint author), Childrens Hosp, Dept Radiol, 300 Longwood Ave, Boston, MA 02115 USA. EM weisen@crl.med.harvard.edu FU NIH [R01 RR021885, R01 EB008015, R03 EB008680, R01 LM010033]; Boston Children's Hospital Translational Research Program; American Academy of Neurology; Nancy Lurie Marks Foundation; John Merck Scholars Fund FX The authors are indebted to the children and families who participated in this study. The authors also wish to thank the staff of the Multi-Disciplinary Tuberous Sclerosis Program, as well as other staff at Boston Children's Hospital who were critical to this work. This investigation was supported in part by NIH grants R01 RR021885, R01 EB008015, R03 EB008680, and R01 LM010033 (N.I.W., S.K.W.) and Boston Children's Hospital Translational Research Program (M.S., S.K.W.). P.T.T. was supported by the American Academy of Neurology and the Nancy Lurie Marks Foundation. M.S. was supported by the John Merck Scholars Fund. 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Neurol. PD FEB PY 2013 VL 48 IS 2 BP 105 EP 110 DI 10.1016/j.pediatrneurol.2012.10.011 PG 6 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 081KW UT WOS:000314322100003 PM 23337002 ER PT J AU Radulescu, E Ganeshan, B Minati, L Beacher, FDCC Gray, MA Chatwin, C Young, RCD Harrison, NA Critchley, HD AF Radulescu, E. Ganeshan, B. Minati, L. Beacher, F. D. C. C. Gray, M. A. Chatwin, C. Young, R. C. D. Harrison, N. A. Critchley, H. D. TI Gray matter textural heterogeneity as a potential in-vivo biomarker of fine structural abnormalities in Asperger syndrome SO PHARMACOGENOMICS JOURNAL LA English DT Article DE asperger syndrome; caudate; cerebellum; magnetic resonance imaging; texture analysis; voxel-based morphometry ID AUTISM SPECTRUM DISORDERS; VOXEL-BASED MORPHOMETRY; BRAIN-DEVELOPMENT; BASAL GANGLIA; METAANALYSIS; VOLUME; NEUROANATOMY; DYSFUNCTION; CEREBELLUM; STRIATUM AB Brain imaging studies contribute to the neurobiological understanding of Autism Spectrum Conditions (ASC). Herein, we tested the prediction that distributed neurodevelopmental abnormalities in brain development impact on the homogeneity of brain tissue measured using texture analysis (TA; a morphological method for surface pattern characterization). TA was applied to structural magnetic resonance brain scans of 54 adult participants (24 with Asperger syndrome (AS) and 30 controls). Measures of mean gray-level intensity, entropy and uniformity were extracted from gray matter images at fine, medium and coarse textures. Comparisons between AS and controls identified higher entropy and lower uniformity across textures in the AS group. Data reduction of texture parameters revealed three orthogonal principal components. These were used as regressors-of-interest in a voxel-based morphometry analysis that explored the relationship between surface texture variations and regional gray matter volume. Across the AS but not control group, measures of entropy and uniformity were related to the volume of the caudate nuclei, whereas mean gray-level was related to the size of the cerebellar vermis. Similar to neuropathological studies, our study provides evidence for distributed abnormalities in the structural integrity of gray matter in adults with ASC, in particular within corticostriatal and corticocerebellar networks. Additionally, this in-vivo technique may be more sensitive to fine microstructural organization than other more traditional magnetic resonance approaches and serves as a future testable biomarker in AS and other neurodevelopmental disorders. The Pharmacogenomics Journal (2013) 13, 70-79; doi:10.1038/tpj.2012.3; published online 14 February 2012 C1 [Radulescu, E.] Univ Sussex, CISC, Brighton & Sussex Med Sch, Dept Psychiat, Brighton BN1 9RR, E Sussex, England. [Radulescu, E.; Harrison, N. A.; Critchley, H. D.] Univ Sussex, Sackler Ctr Consciousness Sci, Brighton BN1 9RR, E Sussex, England. [Minati, L.] Fdn IRCCS Ist Neurol Carlo Besta, Dept Sci, Milan, Italy. [Beacher, F. D. C. C.] SUNY Stony Brook, Sch Med, Dept Biomed Engn, Stony Brook, NY 11794 USA. [Gray, M. A.] Monash Univ, Sch Psychol & Psychiat, Expt Neuropsychol Res Unit, Melbourne, Vic 3004, Australia. [Chatwin, C.; Young, R. C. D.] Univ Sussex, Dept Engn & Design, Brighton BN1 9RR, E Sussex, England. [Harrison, N. A.; Critchley, H. D.] Sussex Partnership NHS Fdn Trust, Neurobehav Clin, Sussex Educ Ctr, Hove, England. RP Radulescu, E (reprint author), Univ Sussex, CISC, Brighton & Sussex Med Sch, Dept Psychiat, Brighton BN1 9RR, E Sussex, England. EM e.radulescu@bsms.ac.uk RI Gray, Marcus/F-6521-2013 OI Gray, Marcus/0000-0001-8671-6939 FU Dr Mortimer and Theresa Sackler Foundation; Wellcome Trust Programme Grant; Shirley Foundation FX ER and partly HDC are supported by a donation from the 'Dr Mortimer and Theresa Sackler Foundation'. HDC was supported by a Wellcome Trust Programme Grant and LM was supported by the Shirley Foundation during the acquisition of this data. Dr Nicholas Dowell's assistance with imaging processing is acknowledged. 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PD FEB PY 2013 VL 13 IS 1 BP 70 EP 79 DI 10.1038/tpj.2012.3 PG 10 WC Genetics & Heredity; Pharmacology & Pharmacy SC Genetics & Heredity; Pharmacology & Pharmacy GA 079ZI UT WOS:000314210400009 PM 22333911 ER PT J AU Wills, AJ Milton, F Longmore, CA Hester, S Robinson, J AF Wills, Andy J. Milton, Fraser Longmore, Christopher A. Hester, Sarah Robinson, Jo TI Is overall similarity classification less effortful than single-dimension classification? SO QUARTERLY JOURNAL OF EXPERIMENTAL PSYCHOLOGY LA English DT Article DE Analytic; Nonanalytic; Overall similarity; Categorization; Family resemblance ID HUMANS HOMO-SAPIENS; CATEGORY CONSTRUCTION; FAMILY-RESEMBLANCE; MULTIDIMENSIONAL STIMULI; TASK INTERFERENCE; LEARNING-SYSTEMS; CATEGORIZATION; PERCEPTION; ATTENTION; AUTISM AB It is sometimes argued that the implementation of an overall similarity classification is less effortful than the implementation of a single-dimension classification. In the current article, we argue that the evidence securely in support of this view is limited, and report additional evidence in support of the opposite propositionoverall similarity classification is more effortful than single-dimension classification. Using a match-to-standards procedure, Experiments 1A, 1B and 2 demonstrate that concurrent load reduces the prevalence of overall similarity classification, and that this effect is robust to changes in the concurrent load task employed, the level of time pressure experienced, and the short-term memory requirements of the classification task. Experiment 3 demonstrates that participants who produced overall similarity classifications from the outset have larger working memory capacities than those who produced single-dimension classifications initially, and Experiment 4 demonstrates that instructions to respond meticulously increase the prevalence of overall similarity classification. C1 [Wills, Andy J.; Milton, Fraser; Longmore, Christopher A.; Hester, Sarah; Robinson, Jo] Univ Exeter, Exeter, Devon, England. RP Wills, AJ (reprint author), Univ Plymouth, Sch Psychol, Plymouth PL4 8AA, Devon, England. EM andy@willslab.co.uk FU ESRC [RES-000-22-1779, PTA-026-27-1256]; Great Western Research Fellowship FX This research was supported by ESRC grant RES-000-22-1779 awarded to Andy J. Wills and ESRC Grant PTA-026-27-1256 and a Great Western Research Fellowship awarded to Fraser Milton. Andy J. Wills and Christopher A. Longmore are now at the School of Psychology, Plymouth University. CR Ashby FG, 1998, PSYCHOL REV, V105, P442, DOI 10.1037/0033-295X.105.3.442 Ashby F Gregory, 2005, Annu Rev Psychol, V56, P149, DOI 10.1146/annurev.psych.56.091103.070217 Goldstone RL, 1998, COGNITION, V65, P231, DOI 10.1016/S0010-0277(97)00047-4 Bott L, 2006, Q J EXP PSYCHOL, V59, P1237, DOI 10.1080/02724980543000196 Brooks L. 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J. Exp. Psychol. PD FEB 1 PY 2013 VL 66 IS 2 BP 299 EP 318 DI 10.1080/17470218.2012.708349 PG 20 WC Psychology, Biological; Physiology; Psychology; Psychology, Experimental SC Psychology; Physiology GA 079GE UT WOS:000314157800007 PM 22897383 ER PT J AU Jones, KL Will, MJ Hecht, PM Parker, CL Beversdorf, DQ AF Jones, Karen L. Will, Matt. J. Hecht, Patrick M. Parker, Cassandra L. Beversdorf, David Q. TI Maternal diet rich in omega-6 polyunsaturated fatty acids during gestation and lactation produces autistic-like sociability deficits in adult offspring SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Behavior; Autism spectrum disorders; Prenatal stress; Diet; Polyunsaturated fatty acids ID PRENATAL STRESS; BRAIN-DEVELOPMENT; INFANTILE-AUTISM; TWIN PAIRS; PREGNANCY; CHILDREN; MICE; IMMUNOGLOBULIN; DISORDER; ANXIETY AB Multiple studies have reported prenatal stress as a potential risk factor for the development of autism spectrum disorder (ASD). In rodents, a significant reduction in sociability is seen in prenatally stressed offspring of genetically stress-susceptible dams. Certain dietary factors that contribute to stress reactivity may, therefore, exacerbate prenatal stress-mediated behavioral changes in adult offspring. Adults with a diet rich in omega-6 polyunsaturated fatty acids (PUFAs) display increased stress reactivity. In the current study, the effects of prenatal diet and prenatal stress on social behavior in adult offspring mice were examined. Pregnant C57BL/6J dams received either chronic variable stress or no stress, and were also placed on a control diet or a diet rich in omega-6 PUFAs, in a 2 x 2 design. We subsequently tested the adult offspring for sociability, anxiety, and locomotor behaviors using a 3-chambered social approach task, an elevated-plus maze, an open field task and a rotarod task. Results indicated that a maternal diet rich in omega-6 PUFAs during gestation and lactation produce changes in sociability consistent with those observed in ASD. Additionally, offspring exposed to a diet rich in omega-6 PUFAs during gestation and lactation had increased levels of anxiety in the elevated-plus maze. Prenatal stress had no effect on offspring behavior. These findings provide evidence for a possible environmental risk factor that contributes to the production of autistic-like behavior in mice. (c) 2012 Elsevier B.V. All rights reserved. C1 [Jones, Karen L.; Will, Matt. J.; Hecht, Patrick M.; Beversdorf, David Q.] Univ Missouri, Interdisciplinary Neurosci Program, Columbia, MO 65211 USA. [Jones, Karen L.; Will, Matt. J.; Hecht, Patrick M.; Beversdorf, David Q.] Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Columbia, MO 65211 USA. [Will, Matt. J.; Parker, Cassandra L.; Beversdorf, David Q.] Univ Missouri, Dept Psychol, 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), Univ Missouri, Interdisciplinary Neurosci Program, 130E Thompson Ctr,205 Portland St, Columbia, MO 65211 USA. EM KLJones@mail.missouri.edu; Willm@missouri.edu; pmhp6d@mail.missouri.edu; clphf2@mail.missouri.edu; beversdorfd@health.missouri.edu FU Kansas City Life Science Patton Research Grant; University of Missouri Research Investment Fund FX This research was supported by the Kansas City Life Science Patton Research Grant and the University of Missouri Research Investment Fund. 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Brain Res. PD FEB 1 PY 2013 VL 238 BP 193 EP 199 DI 10.1016/j.bbr.2012.10.028 PG 7 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA 078ZE UT WOS:000314138800025 PM 23098794 ER PT J AU Smith, AL Freeman, SM Voll, RJ Young, LJ Goodman, MM AF Smith, Aaron L. Freeman, Sara M. Voll, Ronald J. Young, Larry J. Goodman, Mark M. TI Carbon-11 N-methyl alkylation of L-368,899 and in vivo PET imaging investigations for neural oxytocin receptors SO BIOORGANIC & MEDICINAL CHEMISTRY LETTERS LA English DT Article DE Oxytocin; Vasopressin; PET imaging; L-368,899; Pituitary; Receptor imaging ID BLOOD-BRAIN-BARRIER; PRETERM LABOR; GENE OXTR; AUTISM; ASSOCIATION; VASOPRESSIN; ANTAGONIST; BEHAVIOR; CHILDREN AB Compound L-368,899 was successfully alkylated with [C-11] iodomethane to generate the oxytocin receptor selective (2R)-2-amino-N-((2S)-7,7-dimethyl-1-(((4-(o-tolyl)piperazin-1-yl)sulfonyl)methyl) bicyclo[2.2.1]heptan-2-yl)-N-[C-11]methyl-3-(methylsulfonyl)propanamide ([C-11]1) with very high radio-chemical purity and high specific activity. PET imaging studies were performed with [C-11]1 to investigate brain penetration and oxytocin receptor uptake using rat and cynomolgus monkey models. For rat baseline scans, brain penetration was observed with [C-11]1, but no specific uptake could be distinguished in the brain region. By administering a peptide oxytocin receptor selective antagonist for peripheral blocking of oxytocin receptors, the uptake of [C-11]1 was amplified in the rat brain temporarily to enable some visual uptake within the rat brain. A baseline scan of [C-11]1 in a cynomolgus monkey model resulted in no detectable specific uptake in anticipated regions, but activity did accumulate in the choroid plexus. (c) 2012 Elsevier Ltd. All rights reserved. C1 [Smith, Aaron L.; Freeman, Sara M.; Young, Larry J.] Yerkes Natl Primate Res Ctr, Dept Psychiat & Behav Sci, Ctr Translat Social Neurosci, Atlanta, GA 30322 USA. [Smith, Aaron L.; Voll, Ronald J.; Goodman, Mark M.] Emory Univ, Dept Radiol & Imaging Sci, Atlanta, GA 30329 USA. RP Goodman, MM (reprint author), Emory Univ, Dept Radiol & Imaging Sci, Atlanta, GA 30329 USA. EM mgoodma@emory.edu FU National Institute of Mental Health [5 R21 MH090776]; NIH [MH064692]; National Center for Research Resources [P51RR165, P51OD11132] FX We thank Larry Williams, Mel Camp, and Eugene Malveaux for their contributions in the rodent studies. We thank the Yerkes National Primate Center's imaging suite staff for primate imaging. We thank the NIMH PDSP directed by Bryan L. Roth MD, PhD at the University of North Carolina at Chapel Hill and Project Officer Jamie Driscol at NIMH, Bethesda MD, USA for their contributions of the human cell line studies. This research was funded by the National Institute of Mental Health through grant 5 R21 MH090776. We also acknowledge NIH MH064692 (LJY) and the National Center for Research Resources P51RR165 (currently P51OD11132) to YNPRC. 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Med. Chem. Lett. PD FEB 1 PY 2013 VL 23 IS 3 BP 902 EP 906 DI 10.1016/j.bmcl.2012.10.116 PG 5 WC Chemistry, Medicinal; Chemistry, Organic SC Pharmacology & Pharmacy; Chemistry GA 072SZ UT WOS:000313694200063 PM 23270988 ER PT J AU Garcia-Filion, P Borchert, M AF Garcia-Filion, Pamela Borchert, Mark TI Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations SO CURRENT TREATMENT OPTIONS IN NEUROLOGY LA English DT Review DE Optic nerve hypoplasia; Septo-optic dysplasia; DeMorsier's syndrome; Hypothalamic dysfunction; Hypopituitarism; Pediatric visual impairment; Developmental delay; Birth defect; Epidemiology ID PITUITARY-HORMONE DEFICIENCY; FETAL ALCOHOL SYNDROME; CORPUS-CALLOSUM; RISK-FACTORS; PERIVENTRICULAR LEUKOMALACIA; SEPTOOPTIC DYSPLASIA; SYSTEM ABNORMALITIES; CIRCADIAN-RHYTHMS; SEPTUM-PELLUCIDUM; KALLMANN-SYNDROME AB Background: Optic nerve hypoplasia (ONH) has developed into a leading cause of congenital blindness. The frequently associated features of hypopituitarism and absent septum pellucidum were felt to have embryonic linkage as "septo-optic dysplasia" or "de Morsier's syndrome." More recent studies have suggested these associations are independent of one another. This review provides an assessment of the historical and recent evidence linking neuroradiologic, endocrinologic and developmental morbidity in patients with ONH. The prenatal risk factors, heritability, and genetic mutations associated with ONH are described. Results: Recognition of the critical association of ONH with hypopituitarism should be attributed to William Hoyt, not Georges de Morsier. De Morsier never described a case of ONH or recognized its association with hypopituitarism or missing septum pellucidum. Hypopituitarism is caused by hypothalamic dysfunction. This, and other more recently identified associations with ONH, such as developmental delay and autism, are independent of septum pellucidum development. Other common neuroradiographic associations such as corpus callosum hypoplasia, gyrus dysplasia, and cortical heterotopia may have prognostic significance. The predominant prenatal risk factors for ONH are primiparity and young maternal age. Presumed risk factors such as prenatal exposure to drugs and alcohol are not supported by scrutiny of the literature. Heritability and identified gene mutations in cases of ONH are rare. Conclusion: Children with ONH require monitoring for many systemic, developmental, and even life-threatening problems independent of the severity of ONH and presence of brain malformations including abnormalities of the septum pellucidum. "Septo-optic dysplasia" and "de Morsier's syndrome" are historically inaccurate and clinically misleading terms. C1 [Garcia-Filion, Pamela] Childrens Hosp Los Angeles, Vis Ctr, Los Angeles, CA 90027 USA. [Borchert, Mark] Univ So Calif, Keck Med Ctr, Los Angeles, CA 90027 USA. 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Treat. Options Neurol. PD FEB PY 2013 VL 15 IS 1 BP 78 EP 89 DI 10.1007/s11940-012-0209-2 PG 12 WC Clinical Neurology SC Neurosciences & Neurology GA 077MG UT WOS:000314031200007 PM 23233151 ER PT J AU Barber, JCK Hall, V Maloney, VK Huang, SW Roberts, AM Brady, AF Foulds, N Bewes, B Volleth, M Liehr, T Mehnert, K Bateman, M White, H AF Barber, John C. K. Hall, Victoria Maloney, Viv K. Huang, Shuwen Roberts, Angharad M. Brady, Angela F. Foulds, Nicki Bewes, Beverley Volleth, Marianne Liehr, Thomas Mehnert, Karl Bateman, Mark White, Helen TI 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2 SO EUROPEAN JOURNAL OF HUMAN GENETICS LA English DT Article DE chromosomes, human, pair 16; chromosome duplication; 16p11.2-p12.2; DNA array; euchromatic variant; copy number variation ID MILD MENTAL-RETARDATION; COPY-NUMBER; MICRODELETION SYNDROME; DEVELOPMENTAL DELAY; TANDEM DUPLICATION; ARRAY CGH; AUTISM; DELETIONS; GENE; 16P AB Chromosome 16 contains multiple copy number variations (CNVs) that predispose to genomic disorders. Here, we differentiate pathogenic duplications of 16p11.2-p12.2 from microscopically similar euchromatic variants of 16p11.2. Patient 1 was a girl of 18 with autism, moderate intellectual disability, behavioural difficulties, dysmorphic features and a 7.71-Mb (megabase pair) duplication (16:21 521 005-29 233 146). Patient 2 had a 7.81-Mb duplication (16:21 382 561-29 191 527), speech delay and obsessional behaviour as a boy and, as an adult, short stature, macrocephaly and mild dysmorphism. The duplications contain 65 coding genes of which Polo-like kinase 1 (PLK1) has the highest likelihood of being haploinsufficient and, by implication, a triplosensitive gene. An additional 1.11-Mb CNV of 10q11.21 in Patient 1 was a possible modifier containing the G-protein-regulated inducer of neurite growth 2 (GPRIN2) gene. In contrast, the euchromatic variants in Patients 3 and 4 were amplifications from a 945-kb region containing non-functional immunoglobulin heavy chain (IGHV), hect domain pseudogene (HERC2P4) and TP53-inducible target gene 3 (TP53TG3) loci in proximal 16p11.2 (16:31 953 353-32 898 635). Paralogous pyrosequencing gave a total copy number of 3-8 in controls and 8 to >10 in Patients 3 and 4. The 16p11.2-p12.2 duplication syndrome is a recurrent genomic disorder with a variable phenotype including developmental delay, dysmorphic features, mild to severe intellectual disability, autism, obsessive or stereotyped behaviour, short stature and anomalies of the hands and fingers. It is important to differentiate pathogenic 16p11.2-p12.2 duplications from harmless, microscopically similar euchromatic variants of proximal 16p11.2, especially at prenatal diagnosis. European Journal of Human Genetics (2013) 21, 182-189; doi:10.1038/ejhg.2012.144; published online 25 July 2012 C1 [Barber, John C. K.] Univ Southampton, Sch Med, Southampton Gen Hosp, Dept Human Genet & Genom Med,Fac Med, Southampton SO16 6YD, Hants, England. [Hall, Victoria; Huang, Shuwen; White, Helen] Salisbury NHS Fdn Trust, Natl Genet Reference Lab Wessex, Salisbury, Wilts, England. [Maloney, Viv K.; Bateman, Mark] Salisbury NHS Fdn Trust, Wessex Reg Genet Lab, Salisbury, Wilts, England. [Roberts, Angharad M.; Brady, Angela F.; Bewes, Beverley] Northwick Pk & St Marks Hosp, NW Thames Reg Genet Serv, Kennedy Galton Ctr, Harrow, Middx, England. [Foulds, Nicki] Univ Hosp Southampton NHS Fdn Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England. [Volleth, Marianne] Otto Von Guericke Univ, Inst Humangenet, Magdeburg, Germany. [Liehr, Thomas] Jena Univ Hosp, Inst Human Genet, Jena, Germany. [Mehnert, Karl] Genetikum Neu Ulm, Genet Beratung & Diagnost, Neu Ulm, Germany. RP Barber, JCK (reprint author), Univ Southampton, Sch Med, Southampton Gen Hosp, Dept Human Genet & Genom Med,Fac Med, Tremona Rd, Southampton SO16 6YD, Hants, England. EM john.barber@soton.ac.uk FU UK Department of Health as part of the National Genetics Reference Laboratory (Wessex) FX We thank all four families concerned as well as Dr Christine Garrett and Dr Kay MacDermot for their clinical input on Patient 1. We are grateful to Dr Petra Muschke (Magdeburg) for the information on Patient 3 and for contacting her for the second blood sampling. We thank Dr Ilona Dietze-Armana for sending information on Patient 4. We are also grateful to Professor Hunt Willard for the D16Z2 centromeric probe. VH, SH and HW were supported by the UK Department of Health as part of the National Genetics Reference Laboratory (Wessex). 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J. Hum. Genet. PD FEB PY 2013 VL 21 IS 2 BP 182 EP 189 DI 10.1038/ejhg.2012.144 PG 8 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 077BQ UT WOS:000314003300008 PM 22828807 ER PT J AU Field, LL Shumansky, K Ryan, J Truong, D Swiergala, E Kaplan, BJ AF Field, L. L. Shumansky, K. Ryan, J. Truong, D. Swiergala, E. Kaplan, B. J. TI Dense-map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36 SO GENES BRAIN AND BEHAVIOR LA English DT Article DE ADHD; association analysis; autism; dyslexia genetics; family-based studies; gene mapping; genome scan; linkage analysis; overlapping predisposition; susceptibility ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; SIB-PAIR ANALYSIS; READING-DISABILITY; SUSCEPTIBILITY LOCUS; DEVELOPMENTAL DYSLEXIA; LINKAGE DISEQUILIBRIUM; CANADIAN FAMILIES; GENETIC ETIOLOGY; HEPARAN-SULFATE; AUTISM AB Analysis of genetic linkage to dyslexia was performed using 133,165 array-based SNPs genotyped in 718 persons from 101 dyslexia-affected families. Results showed five linkage peaks with lod scores >2.3 (4q13.1, 7q36.1-q36.2, 7q36.3, 16p12.1, and 17q22). Of these five regions, three have been previously implicated in dyslexia (4q13.1, 16p12.1, and 17q22), three have been implicated in attention-deficit hyperactivity disorder (ADHD, which highly co-occurs with dyslexia; 4q13.1, 7q36.3, 16p12.1) and four have been implicated in autism (a condition characterized by language deficits; 7q36.1-q36.2, 7q36.3, 16p12.1, and 17q22). These results highlight the reproducibility of dyslexia linkage signals, even without formally significant lod scores, and suggest dyslexia predisposing genes with relatively major effects and locus heterogeneity. The largest lod score (2.80) occurred at 17q22 within the MSI2 gene, involved in neuronal stem cell lineage proliferation. Interestingly, the 4q13.1 linkage peak (lod 2.34) occurred immediately upstream of the LPHN3 gene, recently reported both linked and associated with ADHD. Separate analyses of larger pedigrees revealed lods >2.3 at 13 regions per family; one family showed strong linkage (lod 2.9) to a known dyslexia locus (18p11) not detected in our overall data, demonstrating the value of analyzing single large pedigrees. Association analysis identified no SNPs with genome-wide significance, although a borderline significant SNP (P= 6 x107) occurred at 5q35.1 near FGF18, involved in laminar positioning of cortical neurons during development. We conclude that dyslexia genes with relatively major effects exist, are detectable by linkage analysis despite genetic heterogeneity, and show substantial overlapping predisposition with ADHD and autism. C1 [Field, L. L.; Shumansky, K.; Ryan, J.; Truong, D.; Swiergala, E.] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada. [Kaplan, B. J.] Univ Calgary, Dept Pediat, Calgary, AB T2N 1N4, Canada. RP Field, LL (reprint author), BC Womens Hosp & Hlth Ctr, Dept Med Genet, Rm C234,4500 Oak St, Vancouver, BC V6H 3N1, Canada. EM llfield@mail.ubc.ca FU Canadian Institutes of Health Research [MT-15661]; Alberta Mental Health Research Fund; Alberta Children's Hospital Foundation; Canadian Genetic Diseases Network of Centres of Excellence Programme; BC Children's Hospital Foundation; Alberta Heritage Foundation for Medical Research FX Supported by grants from the Canadian Institutes of Health Research (grant MT-15661 to L. L. F.), the Alberta Mental Health Research Fund (to B.J.K. and L. L. F.), Alberta Children's Hospital Foundation (B.J.K.), and the Canadian Genetic Diseases Network of Centres of Excellence Programme (L. L. F.), as well as a Senior Scientist Awards to L. L. F. from the BC Children's Hospital Foundation and the Alberta Heritage Foundation for Medical Research. We greatly appreciate the assistance of D. Fong in graphics preparation, and thank Affymetrix for generous assistance while our lab was a beta test site. The authors have no conflicts of interest to declare. 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Negative affect is one of the most salient predictors of problem behaviors and has been associated with both anxiety and autistic outcomes in clinical and non-clinical pediatric samples. In light of the high comorbidity between autism and anxiety within FXS, the present study investigates the relationship between longitudinal trajectories of negative affect (between 8 and 71 months) and severity of anxiety and autistic outcomes in young males with FXS (n = 25). Multilevel models indicated associations between elevated anxiety and higher fear and sadness, lower soothability, and steeper longitudinal increases in approach. Autistic outcomes were unrelated to negative affect. These findings suggest early negative affect differentially predicts anxiety, not autistic symptoms, within FXS. Future research is warranted to determine the specificity of the relationship between negative affect and anxiety, as well as to explore potential moderators. 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Child Psychol. PD FEB PY 2013 VL 41 IS 2 BP 267 EP 280 DI 10.1007/s10802-012-9671-2 PG 14 WC Psychology, Clinical; Psychology, Developmental SC Psychology GA 078IY UT WOS:000314093200007 PM 23011214 ER PT J AU Mayo, J Chlebowski, C Fein, DA Eigsti, IM AF Mayo, Jessica Chlebowski, Colby Fein, Deborah A. Eigsti, Inge-Marie TI Age of First Words Predicts Cognitive Ability and Adaptive Skills in Children with ASD SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Autism spectrum disorders; Language acquisition; Language delay; Developmental milestones; Prognosis ID AUTISM SPECTRUM DISORDERS; PERVASIVE DEVELOPMENTAL DISORDERS; MODIFIED CHECKLIST; DIAGNOSTIC INTERVIEW; LANGUAGE-DEVELOPMENT; ASPERGER-SYNDROME; YOUNG-CHILDREN; TODDLERS; COMMUNICATION; DELAYS AB Acquiring useful language by age 5 has been identified as a strong predictor of positive outcomes in individuals with Autism Spectrum Disorders (ASD). This study examined the relationship between age of language acquisition and later functioning in children with ASD (n = 119). First word acquisition at a range of ages was probed for its relationship to cognitive ability and adaptive behaviors at 52 months. Results indicated that although producing first words predicted better outcome at every age examined, producing first words by 24 months was a particularly strong predictor of better outcomes. This finding suggests that the historic criterion for positive prognosis (i.e., "useful language by age 5") can be updated to a more specific criterion with an earlier developmental time point. C1 [Mayo, Jessica; Chlebowski, Colby; Fein, Deborah A.; Eigsti, Inge-Marie] Univ Connecticut, Dept Psychol, Storrs, CT 06269 USA. RP Mayo, J (reprint author), Univ Connecticut, Dept Psychol, 406 Babbidge Rd,U-1020, Storrs, CT 06269 USA. 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Dapretto, Mirella TI Neural and Behavioral Responses During Self-Evaluative Processes Differ in Youth With and Without Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Self; Ventral mPFC; Anterior insula; Middle cingulate cortex; Development ID SPECTRUM DISORDER; AUTOBIOGRAPHICAL MEMORY; FUNCTIONAL CONNECTIVITY; DIAGNOSTIC INTERVIEW; PERSPECTIVE-TAKING; PREFRONTAL CORTEX; SOCIAL COGNITION; CINGULATE CORTEX; NETWORK ANALYSIS; ANTERIOR INSULA AB This fMRI study investigated neural responses while making appraisals of self and other, across the social and academic domains, in children and adolescents with and without autism spectrum disorders (ASD). Compared to neurotypical youth, those with ASD exhibited hypoactivation of ventromedial prefrontal cortex during self-appraisals. Responses in middle cingulate cortex (MCC) and anterior insula (AI) also distinguished between groups. 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Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 272 EP 285 DI 10.1007/s10803-012-1563-3 PG 14 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600003 PM 22760337 ER PT J AU Dratsch, T Schwartz, C Yanev, K Schilbach, L Vogeley, K Bente, G AF Dratsch, Thomas Schwartz, Caroline Yanev, Kliment Schilbach, Leonhard Vogeley, Kai Bente, Gary TI Getting a Grip on Social Gaze: Control over Others' Gaze Helps Gaze Detection in High-Functioning Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE High-functioning autism; Direct gaze; Control; Predictability ID NORMAL SEX-DIFFERENCES; ASPERGER-SYNDROME; EYE-GAZE; SPECTRUM DISORDERS; SYSTEMATIZING QUOTIENT; EMPATHY QUOTIENT; AVERTED GAZE; CHILDREN; ADULTS; PERCEPTION AB We investigated the influence of control over a social stimulus on the ability to detect direct gaze in high-functioning autism (HFA). In a pilot study, 19 participants with and 19 without HFA were compared on a gaze detection and a gaze setting task. Participants with HFA were less accurate in detecting direct gaze in the detection task, but did not differ in their ability to establish direct gaze in the setting task. In the main experiment, the results of the pilot study were replicated with 37 participants with and 39 without HFA, suggesting that individuals with HFA have a specific deficit in the passive perception of social cues as opposed to the active control, which seems to be intact. C1 [Dratsch, Thomas; Schwartz, Caroline; Yanev, Kliment; Bente, Gary] Univ Cologne, Dept Psychol, D-50931 Cologne, Germany. [Schilbach, Leonhard; Vogeley, Kai] Univ Hosp Cologne, Dept Psychiat, D-50924 Cologne, Germany. [Schilbach, Leonhard] Max Planck Inst Neurol Res, D-50931 Cologne, Germany. [Vogeley, Kai] Res Ctr Juelich, Inst Neurosci & Med Cognit Neurosci INM3, Julich, Germany. RP Dratsch, T (reprint author), Univ Cologne, Dept Psychol, Richard Strauss St 2, D-50931 Cologne, Germany. 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Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 286 EP 300 DI 10.1007/s10803-012-1569-x PG 15 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600004 PM 22696196 ER PT J AU Ploog, BO Scharf, A Nelson, D Brooks, PJ AF Ploog, Bertram O. Scharf, Alexa Nelson, DeShawn Brooks, Patricia J. TI Use of Computer-Assisted Technologies (CAT) to Enhance Social, Communicative, and Language Development in Children with Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Computer-assisted technology; Autism; Efficacy; Language; Social skills; Emotion recognition ID COMPLEX EMOTION RECOGNITION; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; VIRTUAL ENVIRONMENTS; STIMULUS OVERSELECTIVITY; INTERACTIVE MULTIMEDIA; ANIMATED TUTOR; PRETEND PLAY; INSTRUCTION; SKILLS AB Major advances in multimedia computer technology over the past decades have made sophisticated computer games readily available to the public. This, combined with the observation that most children, including those with autism spectrum disorders (ASD), show an affinity to computers, has led researchers to recognize the potential of computer technology as an effective and efficient tool in research and treatment. This paper reviews the use of computer-assisted technology (CAT), excluding strictly internet-based approaches, to enhance social, communicative, and language development in individuals with ASD by dividing the vast literature into four main areas: language, emotion recognition, theory of mind, and social skills. Although many studies illustrate the tremendous promise of CAT to enhance skills of individuals with ASD, most lack rigorous, scientific assessment of efficacy relative to non-CAT approaches. C1 [Ploog, Bertram O.; Nelson, DeShawn; Brooks, Patricia J.] CUNY, Grad Ctr, New York, NY 10016 USA. [Ploog, Bertram O.; Scharf, Alexa; Brooks, Patricia J.] CUNY Coll Staten Isl, Dept Psychol, Staten Isl, NY 10314 USA. 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PD FEB PY 2013 VL 43 IS 2 BP 301 EP 322 DI 10.1007/s10803-012-1571-3 PG 22 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600005 PM 22706582 ER PT J AU Gowen, E Hamilton, A AF Gowen, Emma Hamilton, Antonia TI Motor Abilities in Autism: A Review Using a Computational Context SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Motor control; Sensorimotor integration; Prediction; Motor learning ID HIGH-FUNCTIONING AUTISM; DEVELOPMENTAL COORDINATION DISORDER; SACCADIC EYE-MOVEMENTS; SIGNAL-DEPENDENT NOISE; DORSAL VISUAL PATHWAY; SPECTRUM DISORDERS; ASPERGER-SYNDROME; INTERNAL-MODELS; YOUNG-CHILDREN; SENSORY ABNORMALITIES AB Altered motor behaviour is commonly reported in Autism Spectrum Disorder, but the aetiology remains unclear. Here, we have taken a computational approach in order to break down motor control into different components and review the functioning of each process. Our findings suggest abnormalities in two areas-poor integration of information for efficient motor planning, and increased variability in basic sensory inputs and motor outputs. In contrast, motor learning processes are relatively intact and there is inconsistent evidence for deficits in predictive control. We suggest future work on motor abilities in autism should focus on sensorimotor noise and on higher level motor planning, as these seem to have a significant role in causing motor difficulties for autistic individuals. C1 [Gowen, Emma] Univ Manchester, Fac Life Sci, Manchester M13 9PT, Lancs, England. [Hamilton, Antonia] Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, England. RP Gowen, E (reprint author), Univ Manchester, Fac Life Sci, Carys Bannister Bldg,Dover St, Manchester M13 9PT, Lancs, England. 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PD FEB PY 2013 VL 43 IS 2 BP 323 EP 344 DI 10.1007/s10803-012-1574-0 PG 22 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600006 PM 22723127 ER PT J AU Coman, D Alessandri, M Gutierrez, A Novotny, S Boyd, B Hume, K Sperry, L Odom, S AF Coman, Drew Alessandri, Michael Gutierrez, Anibal Novotny, Stephanie Boyd, Brian Hume, Kara Sperry, Laurie Odom, Samuel TI Commitment to Classroom Model Philosophy and Burnout Symptoms Among High Fidelity Teachers Implementing Preschool Programs for Children with Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Teacher commitment; Burnout; Autism spectrum disorders; Comprehensive treatment models ID GENERAL-EDUCATION TEACHERS; DIDST THOU GO; NATIONAL PERSPECTIVE; JOB BURNOUT; ATTRITION; RETENTION; PREDICTORS; INVENTORY; VALIDITY AB Teacher commitment to classroom model philosophy and burnout were explored in a sample of 53 teachers implementing three preschool models at high levels of fidelity for students with autism: Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH); Learning Experiences and Alternative Program for Preschoolers and Their Parents (LEAP); and high quality special education programs (HQSEP's). Relative to the other groups, LEAP teachers reported significantly higher levels of commitment to LEAP philosophy while TEACCH teachers did not report significantly higher commitment levels to TEACCH philosophy. Teachers in HQSEP's reported similar levels of commitment to TEACCH and LEAP. Burnout was also low to moderate in this sample relative to normative data. Implications for school districts and teachers are discussed. C1 [Coman, Drew; Alessandri, Michael; Novotny, Stephanie] Univ Miami, Dept Psychol, Coral Gables, FL 33146 USA. [Gutierrez, Anibal] Florida Int Univ, Dept Psychol, Miami, FL 33199 USA. [Boyd, Brian] Univ N Carolina, Dept Allied Hlth Sci, Chapel Hill, NC USA. [Hume, Kara; Odom, Samuel] Univ N Carolina, Frank Porter Graham Child Dev Inst, Chapel Hill, NC USA. [Sperry, Laurie] Univ Colorado, Sch Educ & Human Dev, Denver, CO 80202 USA. RP Coman, D (reprint author), Univ Miami, Dept Psychol, 5665 Ponce de Leon Blvd, Coral Gables, FL 33146 USA. 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TI Autism Spectrum Traits in Children with Anxiety Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Anxiety; ASD; ADI-R; Children; Risk factor ID PERVASIVE DEVELOPMENTAL DISORDERS; OBSESSIVE-COMPULSIVE DISORDER; INTERNALIZING TRAITS; DIAGNOSTIC INTERVIEW; SOCIAL-BEHAVIOR; DSM-IV; ASSOCIATION; CHILDHOOD; YOUTH; QUESTIONNAIRE AB The aim of this study was to examine ASD traits in children with clinical anxiety in early development, as well as current manifestations. Parents of 42 children with an anxiety disorder (but no known diagnosis of ASD) and 42 typically developing children were interviewed using the Autism Diagnostic Interview (ADI-R). They also completed questionnaires that assessed child anxiety (SCARED-71) and children's ASD symptoms. Results revealed that children with anxiety disorders had higher scores than typically developing children, for both ASD traits in early development as well as current ASD symptoms. 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PD FEB PY 2013 VL 43 IS 2 BP 361 EP 370 DI 10.1007/s10803-012-1575-z PG 10 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600008 PM 22733297 ER PT J AU Hus, V Lord, C AF Hus, Vanessa Lord, Catherine TI Effects of Child Characteristics on the Autism Diagnostic Interview-Revised: Implications for Use of Scores as a Measure of ASD Severity SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorders; Autism diagnostic interview-revised; Severity; Language level; Chronological age ID SPECTRUM DISORDERS; REPETITIVE BEHAVIORS; IQ; PSYCHOPATHOLOGY; IDENTIFICATION; ADOLESCENTS; SYMPTOMS AB The Autism Diagnostic Interview-Revised (ADI-R) is commonly used to inform diagnoses of autism spectrum disorders (ASD). Considering the time dedicated to using the ADI-R, it is of interest to expand the ways in which information obtained from this interview is used. The current study examines how algorithm totals reflecting past (ADI-Diagnostic) and current (ADI-Current) behaviors are influenced by child characteristics, such as demographics, behavioral problems and developmental level. Children with less language at the time of the interview had higher ADI-Diagnostic and ADI-Current. ADI-Diagnostic totals were also associated with age; parents of older children reported more severe past behaviors. Recommendations are provided regarding the use of the ADI-R as a measure of ASD severity, taking language and age into account. C1 [Hus, Vanessa] Univ Michigan, Dept Psychol, Ann Arbor, MI 48109 USA. [Lord, Catherine] Weill Cornell Med Coll, Ctr Autism & Dev Brain, White Plains, NY USA. [Lord, Catherine] NY Presbyterian Hosp, White Plains, NY USA. RP Hus, V (reprint author), Univ Michigan, Dept Psychol, 530 Church St, Ann Arbor, MI 48109 USA. 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Kim, Inyoung Scahill, Lawrence TI Randomized Controlled Trial: Multimodal Anxiety and Social Skill Intervention for Adolescents with Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Anxiety; Adolescence; Treatment ID COGNITIVE-BEHAVIORAL THERAPY; HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; COMORBID PSYCHIATRIC-DISORDERS; ASPERGER-SYNDROME; CLINICAL-TRIAL; CHILDHOOD ANXIETY; CHILDREN; DEPRESSION; YOUTH AB Anxiety is common among adolescents with autism spectrum disorders (ASD) and may amplify the core social disability, thus necessitating combined treatment approaches. This pilot, randomized controlled trial evaluated the feasibility and preliminary outcomes of the Multimodal Anxiety and Social Skills Intervention (MASSI) program in a sample of 30 adolescents with ASD and anxiety symptoms of moderate or greater severity. 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PD FEB PY 2013 VL 43 IS 2 BP 382 EP 394 DI 10.1007/s10803-012-1577-x PG 13 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600010 PM 22735897 ER PT J AU Katagiri, M Kasai, T Kamio, Y Murohashi, H AF Katagiri, Masatoshi Kasai, Tetsuko Kamio, Yoko Murohashi, Harumitsu TI Individuals with Asperger's Disorder Exhibit Difficulty in Switching Attention from a Local Level to a Global Level SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Asperger's disorder; Level-repetition; Switching; Global; Local ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; WEAK COHERENCE; PERCEPTION; DEFICIT; INTERFERENCE; PRECEDENCE; FEATURES; CHILDREN; FOREST AB The purpose of the present study was to determine whether individuals with Asperger's disorder exhibit difficulty in switching attention from a local level to a global level. Eleven participants with Asperger's disorder and 11 age- and gender-matched healthy controls performed a level-repetition switching task using Navon-type hierarchical stimuli. In both groups, level-repetition was beneficial at both levels. Furthermore, individuals with Asperger's disorder exhibited difficulty in switching attention from a local level to a global level compared to control individuals. These findings suggested that there is a problem with the inhibitory mechanism that influences the output of enhanced local visual processing in Asperger's disorder. C1 [Katagiri, Masatoshi] Toyama Univ, Dept Neuropsychiat & Neuropsychol, Grad Sch Med, Toyama 9300194, Japan. [Katagiri, Masatoshi; Kamio, Yoko] Natl Ctr Neurol & Psychiat, Dept Child & Adolescent Mental Hlth, Natl Inst Mental Hlth, Tokyo, Japan. [Kasai, Tetsuko; Murohashi, Harumitsu] Hokkaido Univ, Fac Educ, Sapporo, Hokkaido, Japan. 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Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 395 EP 403 DI 10.1007/s10803-012-1578-9 PG 9 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600011 PM 22729383 ER PT J AU Williams, D Payne, H Marshall, C AF Williams, David Payne, Heather Marshall, Chloe TI Non-word Repetition Impairment in Autism and Specific Language Impairment: Evidence for Distinct Underlying Cognitive Causes SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Specific language impairment; Non-word repetition; Clinical markers ID SHORT-TERM-MEMORY; NONWORD REPETITION; INFANTILE-AUTISM; SPECTRUM DISORDERS; INNER SPEECH; FOLLOW-UP; CHILDREN; DEFICITS; DYSLEXIA; RISK AB Language-impaired individuals with autism perform poorly on tests such as non-word repetition that are sensitive clinical markers of specific language impairment (SLI). This has fuelled the theory that language impairment in autism represents a co-morbid SLI. However, the underlying cause of these deficits may be different in each disorder. In a novel task, we manipulated non-word stimuli in three ways known to influence the repetition accuracy of children with SLI. Participants with SLI were affected differently by these manipulations to children with autism. Children with autism performed similarly to language-matched typical children in terms of levels and patterns of performance, and types of error made, suggesting that the underlying cognitive cause of non-word repetition deficits is different in each disorder. C1 [Williams, David] Univ Durham, Dept Psychol, Durham DH1 3LE, England. [Payne, Heather] City Univ London, Dept Language & Commun Sci, London EC1V 0HB, England. [Marshall, Chloe] Univ London, Dept Psychol & Human Dev, Inst Educ, London WC1H 0AA, England. RP Williams, D (reprint author), Univ Durham, Dept Psychol, Durham DH1 3LE, England. 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PD FEB PY 2013 VL 43 IS 2 BP 404 EP 417 DI 10.1007/s10803-012-1579-8 PG 14 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600012 PM 22733298 ER PT J AU Paul, R Campbell, D Gilbert, K Tsiouri, I AF Paul, Rhea Campbell, Daniel Gilbert, Kimberly Tsiouri, Ioanna TI Comparing Spoken Language Treatments for Minimally Verbal Preschoolers with Autism Spectrum Disorders SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Language; Treatment; Intervention; Communication; Speech ID YOUNG-CHILDREN; PROBING INTERACTIONS; BEHAVIORAL MOMENTUM; COMMUNICATION; TODDLERS; SPEECH; INFANT; INTERVENTIONS; PREFERENCES; REGRESSION AB Preschoolers with severe autism and minimal speech were assigned either a discrete trial or a naturalistic language treatment, and parents of all participants also received parent responsiveness training. After 12 weeks, both groups showed comparable improvement in number of spoken words produced, on average. 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PD FEB PY 2013 VL 43 IS 2 BP 418 EP 431 DI 10.1007/s10803-012-1583-z PG 14 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600013 PM 22733301 ER PT J AU Allen, R Davis, R Hill, E AF Allen, Rory Davis, Rob Hill, Elisabeth TI The Effects of Autism and Alexithymia on Physiological and Verbal Responsiveness to Music SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism; Music; Alexithymia; Emotion ID SPECTRUM DISORDERS; RESPONSES; EMOTIONS; CHILDREN; ADULTS; ADOLESCENTS; EXPERIENCE; VALIDITY; NOISE AB It has been suggested that individuals with autism will be less responsive to the emotional content of music than typical individuals. With the aim of testing this hypothesis, a group of high-functioning adults on the autism spectrum was compared with a group of matched controls on two measures of emotional responsiveness to music, comprising physiological and verbal measures. Impairment in participants ability to verbalize their emotions (type-II alexithymia) was also assessed. The groups did not differ significantly on physiological responsiveness, but the autism group was significantly lower on the verbal measure. However, inclusion of the alexithymia score as a mediator variable nullified this group difference, suggesting that the difference was due not to absence of underlying emotional responsiveness to music in autism, but to a reduced ability to articulate it. C1 [Allen, Rory; Davis, Rob; Hill, Elisabeth] Univ London, Dept Psychol, London SE14 6NW, England. RP Allen, R (reprint author), Univ London, Dept Psychol, Whitehead Bldg, London SE14 6NW, England. 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Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 432 EP 444 DI 10.1007/s10803-012-1587-8 PG 13 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600014 PM 22752845 ER PT J AU Potvin, MC Snider, L Prelock, P Kehayia, E Wood-Dauphinee, S AF Potvin, Marie-Christine Snider, Laurie Prelock, Patricia Kehayia, Eva Wood-Dauphinee, Sharon TI Recreational Participation of Children with High Functioning Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Recreation; Leisure; Autism; Autistic disorder; Asperger disorder; Pervasive developmental disorder ID QUALITY-OF-LIFE; SCHOOL-AGED CHILDREN; ASPERGER-SYNDROME; SPECTRUM-DISORDER; PARENTS PERSPECTIVES; LEISURE ACTIVITIES; RISK-FACTORS; ADOLESCENTS; PROFILES; PLAY AB The recreation of children with High Functioning Autism (HFA) is not well understood. The objective of this cross-sectional study was to compare the recreational engagement of children with HFA and their typically developing peers. Children with HFA (n = 30) and peers (n = 31) were similar on key characteristics that may impact recreation except those related to the HFA attributes. Children with HFA differed from peers in terms of diversity (p = .002), social aspects (p = .006) and locations (p < .001) of recreation. The two groups were not statistically different in personal intensity (p = .684), enjoyment (p = .239) or preferences (p = .788) of recreation. A recreational profile was developed to benefit parents and clinicians in supporting the recreation of these children. C1 [Potvin, Marie-Christine] Univ Vermont, Ctr Disabil & Community Inclus, Burlington, VT 05405 USA. [Snider, Laurie; Kehayia, Eva; Wood-Dauphinee, Sharon] McGill Univ, Sch Phys & Occupat Therapy, Montreal, PQ H3G 1Y5, Canada. [Prelock, Patricia] Univ Vermont, Coll Nursing & Hlth Sci, Burlington, VT 05405 USA. 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Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 445 EP 457 DI 10.1007/s10803-012-1589-6 PG 13 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600015 PM 22752846 ER PT J AU Buon, M Dupoux, E Jacob, P Chaste, P Leboyer, M Zalla, T AF Buon, Marine Dupoux, Emmanuel Jacob, Pierre Chaste, Pauline Leboyer, Marion Zalla, Tiziana TI The Role of Causal and Intentional Judgments in Moral Reasoning in Individuals with High Functioning Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Moral judgment; Theory of mind; Causal reasoning; Autism ID ASPERGER-SYNDROME; DIAGNOSTIC INTERVIEW; EXECUTIVE FUNCTIONS; SPECTRUM DISORDERS; CULPABLE CONTROL; NEURAL BASIS; FAUX PAS; RULE USE; MIND; CHILDREN AB In the present study, we investigated the ability to assign moral responsibility and punishment in adults with high functioning autism or Asperger Syndrome (HFA/AS), using non-verbal cartoons depicting an aggression, an accidental harm or a mere coincidence. 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Disord. PD FEB PY 2013 VL 43 IS 2 BP 458 EP 470 DI 10.1007/s10803-012-1588-7 PG 13 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600016 PM 22760338 ER PT J AU Reed, P Osborne, LA AF Reed, Phil Osborne, Lisa A. TI The Role of Parenting Stress in Discrepancies Between Parent and Teacher Ratings of Behavior Problems in Young Children with Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Autism spectrum disorder; Behavior problems; Informant rating; Discrepancies; Assessment environment; Parent stress ID DISRUPTIVE BEHAVIOR; EMOTIONAL-PROBLEMS; AGREEMENT; QUESTIONNAIRE; ADOLESCENTS; SYMPTOMS; INTERVENTIONS; RESOURCES; MOTHERS; ADHD AB The study assessed whether teacher and parent ratings of child behavior problems were similar for children with autism spectrum disorders. 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Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 471 EP 477 DI 10.1007/s10803-012-1594-9 PG 7 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600017 PM 22767139 ER PT J AU Riby, DM Janes, E Rodgers, J AF Riby, Deborah M. Janes, Emily Rodgers, Jacqui TI Brief Report: Exploring the Relationship Between Sensory Processing and Repetitive Behaviours in Williams Syndrome SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Williams syndrome; Sensory processing; Repetitive behaviour ID AUTISM SPECTRUM DISORDERS; CHILDREN; PHENOTYPE; ADULTS AB This study explored the relationship between sensory processing abnormalities and repetitive behaviours in children with Williams Syndrome (WS; n = 21). This is a novel investigation bringing together two clinical phenomena for the first time in this neuro-developmental disorder. Parents completed the Sensory Profile (Short Form; Dunn in The sensory profile manual. San Antonio: The Psychological Corporation, 1999) and the Repetitive Behaviour Questionnaire (Turner 1995). A significant correlation was evident between the total scores on each of these measures; suggesting that children with WS who exhibit increased sensory processing abnormalities also display a higher number of repetitive behaviours. Further exploratory analyses of subscales of the measures indicated potentially important relationships that suggest a role for arousal regulation in the relationship between sensory processing abnormalities and repetitive behaviours in WS. C1 [Riby, Deborah M.; Janes, Emily] Newcastle Univ, Sch Psychol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. [Janes, Emily; Rodgers, Jacqui] Newcastle Univ, Inst Neurosci, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. RP Janes, E (reprint author), Northumberland Tyne & Wear NHS Trust, Community Team Learning Disabil, Benton House,136 Sandyford Rd, Newcastle Upon Tyne NE2 1QE, Tyne & Wear, England. EM e.v.janes@ncl.ac.uk CR Adolphs R, 2001, J COGNITIVE NEUROSCI, V13, P232, DOI 10.1162/089892901564289 Baker AEZ, 2008, J AUTISM DEV DISORD, V38, P867, DOI 10.1007/s10803-007-0459-0 Chen YH, 2009, J AUTISM DEV DISORD, V39, P635, DOI 10.1007/s10803-008-0663-6 Davies M, 1998, BRIT J PSYCHIAT, V172, P273, DOI 10.1192/bjp.172.3.273 Doherty-Sneddon G., 2009, COGNITIVE NEUROPSYCH, V14, P1 Donnai D, 2000, AM J MED GENET, V97, P164, DOI 10.1002/1096-8628(200022)97:2<164::AID-AJMG8>3.0.CO;2-F Dunn W., 1999, SENSORY PROFILE MANU Dunn W., 2005, TECHNICAL REPORT SEN Gabriels R. L., 2005, INT M AUT RES Gabriels RL, 2008, RES AUTISM SPECT DIS, V2, P660, DOI 10.1016/j.rasd.2008.02.002 Haas BW, 2009, J NEUROSCI, V29, P1132, DOI 10.1523/JNEUROSCI.5324-08.2009 Honey E, 2012, RES AUTISM SPECT DIS, V6, P355, DOI 10.1016/j.rasd.2011.06.009 John A. 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A., 1995, THESIS U CAMBRIDGE U Wechsler D, 1991, WECHSLER INTELLIGENC, V3rd NR 27 TC 1 Z9 1 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 478 EP 482 DI 10.1007/s10803-012-1557-1 PG 5 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600018 PM 22677930 ER PT J AU Brundage, SB Whelan, CJ Burgess, CM AF Brundage, Shelley B. Whelan, Cory J. Burgess, Cathleen M. TI Brief Report: Treating Stuttering in an Adult with Autism Spectrum Disorder SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Article DE Stuttering; Autism; Disfluency; Treatment; Single subject design ID FRAGILE-X SYNDROME; CHILDREN; SPEECH AB Stuttering and autism can co-occur and when they do it presents a significant communication challenge. This study examined the effectiveness of a modified version of the fluency rules program (FRP; Runyan and Runyan, Stuttering and related disorders of fluency, in 2007) to reduce stuttering frequency in a man with autism spectrum disorder (ASD). The participant's percentage of stuttered words (%SW) was calculated during conversational interactions with multiple conversation partners both within and outside of the clinic treatment sessions. Visual inspection methods revealed a reduction in %SW from an average of 14.5 %SW during baseline to 2.07 %SW during the withdrawal phase. The mean baseline reduction in %SW from baseline to the second treatment phase was 91.8 %. The FRP holds promise for reducing %SW in persons with ASD who stutter. C1 [Brundage, Shelley B.] George Washington Univ, Dept Speech & Hearing Sci, Washington, DC 20052 USA. [Burgess, Cathleen M.] Katherine Thomas Sch, Rockville, MD USA. RP Brundage, SB (reprint author), George Washington Univ, Dept Speech & Hearing Sci, 2115 G St NW,Suite 201, Washington, DC 20052 USA. EM brundage@gwu.edu CR BERNSTEINRATNER N, 1996, CLIN LINGUISTICS PHO, V0010 Bloodstein O., 2008, HDB STUTTERING Bothe AK, 2006, AM J SPEECH-LANG PAT, V15, P321, DOI 10.1044/1058-0360(2006/031) Campbell JM, 2004, BEHAV MODIF, V28, P234, DOI 10.1177/0145445503259264 Conture E. G., 1999, STUTTERING RES PRACT Ferraioli SJ, 2011, EVIDENCE-BASED PRACTICES AND TREATMENTS FOR CHILDREN WITH AUTISM, P171, DOI 10.1007/978-1-4419-6975-0_6 FERRIER LJ, 1991, DEV MED CHILD NEUROL, V33, P776 Garcia Winner M., 2005, THINK SOCIAL GOLDMANEISLER F, 1961, LANG SPEECH, V4, P220 Guitar B, 2006, STUTTERING INTEGRATE Hietala A., 2005, AM SPEECH LANG HEAR Kazdin A., 2011, SINGLE CASE RES DESI Lord C., 1999, AUTISM DIAGNOSTIC OB MACLAY H, 1959, WORD, V15, P19 MacWhinney B, 2012, CHILDES PROJECT TOOL Manning W. H., 2010, CLIN DECISION MAKING Olive M. 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W., 2010, PERSPECTIVES FLUENCY, V20, P42 PRIZANT BM, 1981, J SPEECH HEAR DISORD, V46, P241 Riley Glyndon D., 2009, STUTTERING SEVERITY Runyan C., 2007, STUTTERING RELATED D, P100 Runyan C., 1986, LANG SPEECH HEAR SER, V17, P276 RYAN BP, 1995, J SPEECH HEAR RES, V38, P61 Scaler-Scott K., 2007, DISFLUENCY AUTISM SP Semel E., 2003, CLIN EVALUATION LANG, V4th Shriberg LD, 2001, J SPEECH LANG HEAR R, V44, P1097, DOI 10.1044/1092-4388(2001/087) Sisskin V, 2006, PERSPECTIVES FLUENCY, V16, P12 Sisskin V., 2007, SPEECH DISFLUENCY AU Sparrow SS, 2005, VINELAND ADAPTIVE BE Stribling P, 2007, INT J LANG COMM DIS, V42, P427, DOI 10.1080/13682820601183659 Tantam D, 2001, ASPERGER SYNDROME, P367 Van Borsel J, 2007, J FLUENCY DISORD, V32, P279, DOI 10.1016/j.jfludis.2007.07.002 Wechsler D, 1991, WECHSLER INTELLIGENC, V3rd Whitehouse AJO, 2009, INT J LANG COMM DIS, V44, P511, DOI 10.1080/13682820802708098 Yaruss J. S., 1997, CONT ISSUES COMMUNIC, V24, P33 NR 36 TC 1 Z9 1 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 483 EP 489 DI 10.1007/s10803-012-1596-7 PG 7 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600019 PM 22790383 ER PT J AU Kliemann, K AF Kliemann, Karen TI Commentary on "Long-term Cognitive and Behavioral Therapies, Combined with Augmentative Communication are Related to Uncinate Fasciculus Integrity in Autism" Pardini, M., Elia, M., Garaci, R., Guida, S., Coniglione, F., Krueger, F., Benassi, F., & Gialloreti, E. (2011) SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Letter C1 [Kliemann, Karen] Univ N Texas, Denton, TX 76203 USA. RP Kliemann, K (reprint author), 6604 Kingsferry Court, Arlington, TX 76016 USA. EM karinaruth@sbcglobal.net CR Reichow B, 2011, EVIDENCE-BASED PRACTICES AND TREATMENTS FOR CHILDREN WITH AUTISM, P1, DOI 10.1007/978-1-4419-6975-0 Reichow B, 2008, J AUTISM DEV DISORD, V38, P1311, DOI 10.1007/s10803-007-0517-7 NR 2 TC 0 Z9 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 491 EP 492 DI 10.1007/s10803-012-1602-0 PG 2 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600021 PM 22790428 ER PT J AU Gomez-Duran, EL Martin-Fumado, C Litvan, L Campillo, M Taylor, PJ AF Gomez-Duran, Esperanza L. Martin-Fumado, Carles Litvan, Lia Campillo, Maite Taylor, Pamela J. TI Matricide by Failure to Act in Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Letter ID SPECTRUM DISORDERS C1 [Gomez-Duran, Esperanza L.] Fdn Sociosanitaria Barcelona, Hosp Duran & Reynals, Lhospitalet De Llobregat 08908, Spain. [Gomez-Duran, Esperanza L.] Col Legi Oficial Metges Barcelona, Serv Responsabilitat Profess, Barcelona, Spain. [Gomez-Duran, Esperanza L.] Univ Internac Catalunya, Barcelona, Spain. [Martin-Fumado, Carles] Catalan Inst Legal Med, Barcelona, Spain. [Litvan, Lia; Campillo, Maite] CAEM, Barcelona, Spain. [Taylor, Pamela J.] Cardiff Univ, Inst Psychol Med & Clin Neurosci, Sch Med, Cardiff CF10 3AX, S Glam, Wales. RP Gomez-Duran, EL (reprint author), Fdn Sociosanitaria Barcelona, Hosp Duran & Reynals, Av Gran Via LHospitalet, Lhospitalet De Llobregat 08908, Spain. EM elgomezduran@gmail.com CR Bastiaansen J. A., 2010, J AUTISM DEV DISORD, V41, P1256 Filipek PA, 1999, J AUTISM DEV DISORD, V29, P439, DOI 10.1023/A:1021943802493 Horton A. M., 2003, HDB FORENSIC NEUROPS Katz N, 2006, ISRAEL J PSYCHIAT, V43, P166 Cashin Andrew, 2009, J Forensic Nurs, V5, P70, DOI 10.1111/j.1939-3938.2009.01037.x Noland RM, 2004, J AUTISM DEV DISORD, V34, P265, DOI 10.1023/B:JADD.0000029549.84385.44 NR 6 TC 0 Z9 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 495 EP 497 DI 10.1007/s10803-012-1590-0 PG 3 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600023 PM 22790425 ER PT J AU Tomeny, T Barry, T AF Tomeny, Theodore S. Barry, Tammy D. TI Social Skills Training for Children with Asperger Syndrome and High-Functioning Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Book Review C1 [Tomeny, Theodore S.; Barry, Tammy D.] Univ So Mississippi, Hattiesburg, MS 39406 USA. RP Barry, T (reprint author), Univ So Mississippi, 118 Coll Dr 5025, Hattiesburg, MS 39406 USA. EM tammy.barry@usm.edu CR WHITE SW, 2011, SOCIAL SKILLS TRAINI NR 1 TC 0 Z9 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 498 EP 499 DI 10.1007/s10803-012-1610-0 PG 2 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600024 ER PT J AU Smith, J AF Smith, Jeffrey Brian TI Success Strategies for Teaching Kids with Autism SO JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS LA English DT Book Review C1 [Smith, Jeffrey Brian] Univ Memphis, Leadership Dept, Memphis, TN 38016 USA. RP Smith, J (reprint author), Univ Memphis, Leadership Dept, 1437 Dexter Lake Dr,Apt 301, Memphis, TN 38016 USA. EM BrianSmithBCBA@gmail.com CR Ascroft W., 2010, SUCCESS STRATEGIES T ASHCROFT W, 2010, SUCCESS STRATEGIES T Meyers S. M., 2007, PEDIATRICS, V120, P1162 Napolitano DA, 2010, J APPL BEHAV ANAL, V43, P265, DOI 10.1901/jaba.2010.43-265 New York State Department of Health Early Intervention Program, 1999, NYSDH PUBL, V4215 Rogers SJ, 2008, J CLIN CHILD ADOLESC, V37, P8, DOI 10.1080/15374410701817808 Sancho K., 2010, EDUC TREAT CHILD, V33, P421, DOI DOI 10.1353/ETC.0.0097 NR 7 TC 0 Z9 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0162-3257 J9 J AUTISM DEV DISORD JI J. Autism Dev. Disord. PD FEB PY 2013 VL 43 IS 2 BP 500 EP 501 DI 10.1007/s10803-012-1641-6 PG 2 WC Psychology, Developmental SC Psychology GA 074HN UT WOS:000313803600025 ER PT J AU Ozonoff, S AF Ozonoff, Sally TI Editorial: Recovery from autism spectrum disorder (ASD) and the science of hope SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Editorial Material ID CHILDREN CR Broderick AA, 2009, INTELLECT DEV DISAB, V47, P263, DOI 10.1352/1934-9556-47.4.263 Dawson G, 2012, J AM ACAD CHILD PSY, V51, P1150, DOI 10.1016/j.jaac.2012.08.018 LOVAAS OI, 1987, J CONSULT CLIN PSYCH, V55, P3, DOI 10.1037/0022-006X.55.1.3 NR 3 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-9630 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD FEB PY 2013 VL 54 IS 2 BP 113 EP 114 DI 10.1111/jcpp.12045 PG 2 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 075FH UT WOS:000313868700001 PM 23320805 ER PT J AU Rhee, SH Friedman, NP Boeldt, DL Corley, RP Hewitt, JK Knafo, A Lahey, BB Robinson, J Van Hulle, CA Waldman, ID Young, SE Zahn-Waxler, C AF Rhee, Soo Hyun Friedman, Naomi P. Boeldt, Debra L. Corley, Robin P. Hewitt, John. K. Knafo, Ariel Lahey, Benjamin B. Robinson, JoAnn Van Hulle, Carol A. Waldman, Irwin D. Young, Susan E. Zahn-Waxler, Carolyn TI Early concern and disregard for others as predictors of antisocial behavior SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Antisocial behavior; empathy; concern for others; disregard for others ID AUTISM SPECTRUM DISORDER; UNEMOTIONAL TRAITS; FIT INDEXES; EMPATHY; CHILDREN; AGGRESSION; DELINQUENCY; ADOLESCENCE; STABILITY; DISTRESS AB Background: Prediction of antisocial behavior is important, given its adverse impact on both the individuals engaging in antisocial behavior and society. Additional research identifying early predictors of future antisocial behavior, or antisocial propensity, is needed. The present study tested the hypothesis that both concern for others and active disregard for others in distress in toddlers and young children predict antisocial behavior during middle childhood and adolescence. Methods: A representative sample of same-sex twins (N = 956) recruited in Colorado was examined. Mother-rated and researcher-observed concern and disregard for others assessed at age 1436 months were examined as predictors of parent- (age 412), teacher- (age 712), and self-reported (age 17) antisocial behavior. Results: Observed disregard for others predicted antisocial behavior assessed by three different informants (parents, teachers, and self), including antisocial behavior assessed 14 years later. It also predicted a higher order antisocial behavior factor (beta = .58, p < .01) after controlling for observed concern for others. Mother-rated disregard for others predicted parent-reported antisocial behavior. Contrary to predictions, neither mother-rated nor observed concern for others inversely predicted antisocial behavior. Results of twin analyses suggested that the covariation between observed disregard for others and antisocial behavior was due to shared environmental influences. Conclusions: Disregard for others in toddlerhood/early childhood is a strong predictor of antisocial behavior in middle childhood and adolescence. The results suggest the potential need for early assessment of disregard for others and the development of potential interventions. C1 [Rhee, Soo Hyun; Friedman, Naomi P.; Boeldt, Debra L.; Corley, Robin P.; Hewitt, John. K.; Young, Susan E.] Univ Colorado, Inst Behav Genet, Boulder, CO 80309 USA. [Rhee, Soo Hyun; Boeldt, Debra L.; Hewitt, John. K.] Univ Colorado, Dept Psychol & Neurosci, Boulder, CO 80309 USA. [Knafo, Ariel] Hebrew Univ Jerusalem, Dept Psychol, IL-91905 Jerusalem, Israel. [Lahey, Benjamin B.] Univ Chicago, Dept Hlth Studies, Chicago, IL 60637 USA. [Robinson, JoAnn] Univ Connecticut, Dept Human Dev & Family Studies, Storrs, CT USA. [Van Hulle, Carol A.; Zahn-Waxler, Carolyn] Univ Wisconsin, Dept Psychol, Madison, WI 53706 USA. [Waldman, Irwin D.] Emory Univ, Dept Psychol, Atlanta, GA 30322 USA. 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Psychiatry PD FEB PY 2013 VL 54 IS 2 BP 157 EP 166 DI 10.1111/j.1469-7610.2012.02574.x PG 10 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 075FH UT WOS:000313868700005 PM 23320806 ER PT J AU Corsello, CM Akshoomoff, N Stahmer, AC AF Corsello, Christina M. Akshoomoff, Natacha Stahmer, Aubyn C. TI Diagnosis of autism spectrum disorders in 2-year-olds: a study of community practice SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Autism; diagnosis; services research ID MODIFIED CHECKLIST; ADI-R; TODDLERS; CHILDREN; AGE; IDENTIFICATION; AGREEMENT; ADOS AB Background: Longitudinal research studies have demonstrated that experienced clinicians using standardized assessment measures can make a reliable diagnosis of autism spectrum disorders (ASDs) in children under age 3. Limited data are available regarding the sensitivity and specificity of these measures in community settings. The aims of this study were to determine how well a standardized diagnostic observational measure (Autism Diagnostic Observation Schedule ADOS) functions alone, and with a brief parent measure within a community setting when administered by community clinicians. Methods: Clinical records for 138 children between the ages of 24 and 36 months of age who were evaluated for possible ASD or social/language concerns at a hospital-based developmental evaluation clinic were examined. Evaluations were conducted by community-based clinical psychologists. Classification results obtained from standardized diagnostic measures were compared with case reviewer diagnosis, by reviewers blind to scores on diagnostic measures, using The Records-based Methodology for ASD Case Definition that was developed by the Metropolitan Atlanta Developmental Disabilities Surveillance Program. Results: When compared with case review diagnosis, the ADOS demonstrated strong sensitivity and specificity for both Autism versus Not Autism and ASD versus Nonspectrum (NS) diagnoses in this young sample. The Social Communication Questionnaire (SCQ), using the lower cutoff of =12, had adequate sensitivity when differentiating Autism from Not Autism, but weak sensitivity when differentiating ASD from NS, missing about 80% of the children with pervasive developmental disorder not otherwise specified. Using either the Modified Checklist for Autism in Toddlers or the SCQ in combination with the ADOS did not result in improved specificity over the ADOS alone and led to a drop in sensitivity when differentiating ASD from NS disorders. Conclusions: These results demonstrate that following best practice guidelines, the ADOS can be successfully incorporated into clinical practice with relatively good sensitivity and specificity, and worked well with a referred sample of 2-year-olds. A parent questionnaire did not lead to any improvement in diagnostic classification above the ADOS used in isolation. C1 [Corsello, Christina M.; Akshoomoff, Natacha; Stahmer, Aubyn C.] Rady Childrens Hosp San Diego, San Diego, CA USA. [Akshoomoff, Natacha] Univ Calif San Diego, Dept Psychiat, La Jolla, CA 92093 USA. RP Akshoomoff, N (reprint author), Univ Calif San Diego, Dept Psychiat, 9500 Gilman Dr,0115, La Jolla, CA 92093 USA. EM nakshoomoff@ucsd.edu FU National Institutes of Health [K23MH071796, K01MH065325] FX This study was supported by grants from the National Institutes of Health: K23MH071796 (to N.A.) and K01MH065325 (to A. C. S.). We also thank our research assistants, Rebecca Pinon Ruiz, Jasper Estabillo, and Therese Gadomski. CR Bayley N., 2005, BAYLEY SCALES INFANT, Vthird Bayley N, 1993, BAYLEY SCALES INFANT California Department of Developmental Services, 2002, AUT SPECTR DIS BEST CDC (Cent. Dis. Control Prev.), 2007, MMWR SURVEILL SUMM, V56, P12 Charman T, 2005, J CHILD PSYCHOL PSYC, V46, P500, DOI 10.1111/j.1469-7610.2004.00377.x Corsello C, 2007, J CHILD PSYCHOL PSYC, V48, P932, DOI 10.1111/j.1469-7610.2007.01762.x Filipek PA, 2000, NEUROLOGY, V55, P468 Filipek PA, 1999, J AUTISM DEV DISORD, V29, P439, DOI 10.1023/A:1021943802493 Johnson CP, 2007, PEDIATRICS, V120, P1183, DOI 10.1542/peds.2007-2361 Kleinman JM, 2008, J AUTISM DEV DISORD, V38, P827, DOI 10.1007/s10803-007-0450-9 LECOUTEUR A, 1989, J AUTISM DEV DISORD, V19, P363 Lord C, 2006, ARCH GEN PSYCHIAT, V63, P694, DOI 10.1001/archpsyc.63.6.694 Lord C., 2001, AUTISM DIAGNOSTIC OB Mandell D. S., 2007, J AUTISM DEV DISORD, V116, P1480 Mandell DS, 2005, PEDIATRICS, V116, P1480, DOI 10.1542/peds.2005-0185 Mazefsky CA, 2006, AUTISM, V10, P533, DOI 10.1177/136236130606850S Molloy CA, 2011, AUTISM, V15, P143, DOI 10.1177/1362361310379241 Mullen E, 1995, MULLEN SCALES EARLY National Research Council, 2001, ED CHILDR AUT Pandey J, 2008, AUTISM, V12, P513, DOI 10.1177/1362361308094503 Risi S, 2006, J AM ACAD CHILD PSY, V45, P1094, DOI 10.1097/01.chi.0000227880.42780.0e Robins DL, 2006, J DEV BEHAV PEDIATR, V27, pS111, DOI 10.1097/00004703-200604002-00009 Robins DL, 2001, J AUTISM DEV DISORD, V31, P131, DOI 10.1023/A:1010738829569 Rutter M., 2003, ADI R AUTISM DIAGNOS Rutter M., 2003, SOCIAL COMMUNICATION Shattuck PT, 2009, J AM ACAD CHILD PSY, V48, P474, DOI 10.1097/CHI.0b013e31819b3848 Sparrow S. S., 2005, VINELAND ADAPTIVE BE Turner LM, 2007, J CHILD PSYCHOL PSYC, V48, P793, DOI 10.1111/j.1469-7610.2007.01744.x Ventola PE, 2006, J AUTISM DEV DISORD, V36, P839, DOI 10.1007/s10803-006-0128-8 Wechsler D., 2002, WECHSLER PRESCHOOL P, V3rd Wiggins LD, 2008, J AUTISM DEV DISORD, V38, P972, DOI 10.1007/s10803-007-0456-3 NR 31 TC 5 Z9 5 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-9630 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD FEB PY 2013 VL 54 IS 2 BP 178 EP 185 DI 10.1111/j.1469-7610.2012.02607.x PG 8 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 075FH UT WOS:000313868700008 PM 22905987 ER PT J AU Simonoff, E Jones, CRG Baird, G Pickles, A Happe, F Charman, T AF Simonoff, Emily Jones, Catherine R. G. Baird, Gillian Pickles, Andrew Happe, Francesca Charman, Tony TI The persistence and stability of psychiatric problems in adolescents with autism spectrum disorders SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Autism spectrum disorder; psychopathology; psychiatric disorders; emotional and behavioural problems SNAP; longitudinal ID DIFFICULTIES QUESTIONNAIRE SDQ; COMMUNITY SAMPLE; INTELLECTUAL DISABILITY; EMOTIONAL-PROBLEMS; CHILDREN; STRENGTHS; HEALTH; ASSOCIATIONS; COMORBIDITY; PREVALENCE AB Background: Psychiatric problems are common in autism spectrum disorders (ASDs), but the reasons are poorly understood. We use a longitudinal population-representative cohort to examine for the first time the persistence of psychiatric problems and to identify risk factors for their occurrence and stability. Methods: Eighty-one 16-year olds (75 male, six female), initially seen at 12 years, were re-assessed using the parent-report Strengths and Difficulties Questionnaire (SDQ). Child, family and contextual characteristics from age 12 were tested as risk factors for psychopathology. Results: Prevalence rates varied depending on whether general population or ASD-specific SDQ cut-offs were used. While the former suggested a decrease in psychiatric problems over time, the ASD-specific cut-offs showed no significant differences. With the exception of ADHD, the ASD-specific cut-offs identified a smaller proportion of individuals as affected than did the general population cut-offs. There was longitudinal domain specificity, with parent correlations ranging from 0.50 to 0.58 and teacher SDQ reports at age 12 correlating 0.330.53 with parent reports at 16 years. In examining the role of risk factors, lower IQ and adaptive functioning predicted higher hyperactivity and total difficulties scores. Greater emotional problems at 16 were predicted by poorer maternal mental health, family-based deprivation and lower social class. Improvement from 12 to 16 years in conduct problems was predicted by greater neighbourhood deprivation and special school attendance. Conclusions: This is the first longitudinal study of other psychiatric symptoms in ASD. Additional psychiatric problems in ASD are persistent and domain-specific from childhood to adolescence. The finding that age-related reduction in SDQ symptoms does not apply when ASD-specific cut-offs are used requires further evaluation using diagnostic measures. Only a few of the expected risk factor-psychopathology predictions expected from general population studies were found, raising the possibility that the causes of psychopathology in ASD differ from those in the general population. C1 [Simonoff, Emily] Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, London SE5 8AF, England. [Simonoff, Emily; Pickles, Andrew] NIHR Biomed Res Ctr Mental Hlth, London SE5 8AF, England. [Jones, Catherine R. G.] Univ Essex, Dept Psychol, Colchester CO4 3SQ, Essex, England. [Baird, Gillian] Guys & St Thomas NHS Fdn Trust, London, England. [Pickles, Andrew] Kings Coll London, Dept Biostat, Inst Psychiat, London SE5 8AF, England. [Happe, Francesca] Kings Coll London, MRC SGDP Res Ctr, Inst Psychiat, London SE5 8AF, England. [Charman, Tony] Univ London, Inst Educ, Ctr Res Autism & Educ, London WC1N 1AZ, England. RP Simonoff, E (reprint author), Kings Coll London, Inst Psychiat, Dept Child & Adolescent Psychiat, Crespigny Pk, London SE5 8AF, England. EM emily.simonoff@kcl.ac.uk RI Jones, Catherine/E-4956-2013; Charman, Tony/A-2085-2014; Pickles, Andrew/A-9625-2011 OI Charman, Tony/0000-0003-1993-6549; Pickles, Andrew/0000-0003-1283-0346 FU Medical Research Council [G0400065]; Social Communication Questionnaire FX The study was funded by the Medical Research Council (G0400065). We thank Robert Goodman (King's College London) for providing age-specific unpublished UK norms for the Strengths and Difficulties Questionnaire. A. P. receives royalties from the Social Communication Questionnaire. F. H. received a one-off consultancy payment from Novartis in March 2011. There are no other conflicts of interest, financial or otherwise. CR Abidin RR, 1995, PARENTING STRESS IND Angold A, 2000, J AM ACAD CHILD PSY, V39, P39, DOI 10.1097/00004583-200001000-00015 Baird G, 2006, LANCET, V368, P210, DOI 10.1016/S0140-6736(06)69041-7 Bauminger N, 2010, AUTISM RES, V3, P101, DOI 10.1002/aur.131 Bolton PF, 1998, PSYCHOL MED, V28, P385, DOI 10.1017/S0033291797006004 Bourdon KH, 2005, J AM ACAD CHILD PSY, V44, P557, DOI 10.1097/01.chi.0000159157.57075.c8 Charman T, 2011, BRAIN RES, V1380, P10, DOI 10.1016/j.brainres.2010.10.075 Emerson E, 2003, J INTELL DISABIL RES, V47, P51, DOI 10.1046/j.1365-2788.2003.00464.x Foley DL, 2001, J CHILD PSYCHOL PSYC, V42, P381 Ford T, 2004, SOC PSYCH PSYCH EPID, V39, P487, DOI 10.1007/s00127-004-0782-0 Goldberg D. 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S., 1999, VINELAND SCREENER Taylor JL, 2010, J AUTISM DEV DISORD, V40, P1431, DOI 10.1007/s10803-010-1005-z Totsika V, 2011, J CHILD PSYCHOL PSYC, V52, P91, DOI 10.1111/j.1469-7610.2010.02295.x VERHULST FC, 1990, J AM ACAD CHILD PSY, V29, P440, DOI 10.1097/00004583-199005000-00016 Wechsler D., 2004, WECHSLER INTELLIGENC Wechsler D, 1999, WECHSLER ABBREVIATED NR 37 TC 15 Z9 15 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-9630 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD FEB PY 2013 VL 54 IS 2 BP 186 EP 194 DI 10.1111/j.1469-7610.2012.02606.x PG 9 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 075FH UT WOS:000313868700009 PM 22934711 ER PT J AU Fein, D Barton, M Eigsti, IM Kelley, E Naigles, L Schultz, RT Stevens, M Helt, M Orinstein, A Rosenthal, M Troyb, E Tyson, K AF Fein, Deborah Barton, Marianne Eigsti, Inge-Marie Kelley, Elizabeth Naigles, Letitia Schultz, Robert T. Stevens, Michael Helt, Molly Orinstein, Alyssa Rosenthal, Michael Troyb, Eva Tyson, Katherine TI Optimal outcome in individuals with a history of autism SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Autism; outcome; optimal ID INTENSIVE BEHAVIORAL TREATMENT; PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; ASPERGER-SYNDROME; YOUNG-CHILDREN; COMMUNICATION; ADOLESCENTS; HANDEDNESS; DIAGNOSIS; DEFICITS AB Background: Although autism spectrum disorders (ASDs) are generally considered lifelong disabilities, literature suggests that a minority of individuals with an ASD will lose the diagnosis. However, the existence of this phenomenon, as well as its frequency and interpretation, is still controversial: were they misdiagnosed initially, is this a rare event, did they lose the full diagnosis, but still suffer significant social and communication impairments or did they lose all symptoms of ASD and function socially within the normal range? Methods: The present study documents a group of these optimal outcome individuals (OO group, n = 34) by comparing their functioning on standardized measures to age, sex, and nonverbal IQ matched individuals with high-functioning autism (HFA group, n = 44) or typical development (TD group, n = 34). For this study, optimal outcome requires losing all symptoms of ASD in addition to the diagnosis, and functioning within the nonautistic range of social interaction and communication. Domains explored include language, face recognition, socialization, communication, and autism symptoms. Results: Optimal outcome and TD groups mean scores did not differ on socialization, communication, face recognition, or most language subscales, although three OO individuals showed below-average scores on face recognition. Early in their development, the OO group displayed milder symptoms than the HFA group in the social domain, but had equally severe difficulties with communication and repetitive behaviors. Conclusions: Although possible deficits in more subtle aspects of social interaction or cognition are not ruled out, the results substantiate the possibility of OO from autism spectrum disorders and demonstrate an overall level of functioning within normal limits for this group. C1 [Fein, Deborah; Barton, Marianne; Eigsti, Inge-Marie; Naigles, Letitia; Helt, Molly; Orinstein, Alyssa; Troyb, Eva] Univ Connecticut, Dept Psychol, Storrs, CT 06268 USA. [Kelley, Elizabeth] Queens Univ, Dept Psychol, Kingston, ON K7L 3N6, Canada. [Schultz, Robert T.] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA USA. [Stevens, Michael] Hartford Hosp, Inst Living, Hartford, CT 06115 USA. [Fein, Deborah] Univ Connecticut, Dept Pediat, Storrs, CT 06268 USA. RP Fein, D (reprint author), Univ Connecticut, Dept Psychol, Storrs, CT 06268 USA. EM deborah.fein@uconn.edu FU [NIH R01 MH076189] FX The authors are very grateful to the participants and their families, to Dr. Lynn Brennan and Harriet Levin for help with recruitment, to our invaluable undergraduate research assistants, and for our grant funding: NIH R01 MH076189. The authors have declared that they have no competing or potential conflicts of interest to disclose. CR Benton A.L., 1994, CONTRIBUTIONS NEUROP Berument SK, 1999, BRIT J PSYCHIAT, V175, P444, DOI 10.1192/bjp.175.5.444 Billstedt E, 2005, J AUTISM DEV DISORD, V35, P351, DOI 10.1007/s10803-005-3302-5 Cederlund M, 2008, J AUTISM DEV DISORD, V38, P72, DOI 10.1007/s10803-007-0364-6 Cohen H, 2006, J DEV BEHAV PEDIATR, V27, pS145, DOI 10.1097/00004703-200604002-00013 Courchesne E, 2001, NEUROLOGY, V57, P245 Dawson G, 2012, J AM ACAD CHILD PSY, V51, P1150, DOI 10.1016/j.jaac.2012.08.018 Eaves LC, 2008, J AUTISM DEV DISORD, V38, P739, DOI 10.1007/s10803-007-0441-x Eden GF, 2004, NEURON, V44, P411, DOI 10.1016/j.neuron.2004.10.019 Eikeseth S, 2007, BEHAV MODIF, V31, P264, DOI 10.1177/0145445506291396 Escalante-Mead PR, 2003, J AUTISM DEV DISORD, V33, P539, DOI 10.1023/A:1025887713788 FEIN D, 1985, J AUTISM DEV DISORD, V15, P323, DOI 10.1007/BF01531502 Fein D, 2005, J AUTISM DEV DISORD, V35, P525, DOI 10.1007/s10803-005-5066-3 Fountain C, 2012, PEDIATRICS, V129, pE1112, DOI 10.1542/peds.2011-1601 Helt M, 2008, NEUROPSYCHOL REV, V18, P339, DOI 10.1007/s11065-008-9075-9 Howard JS, 2005, RES DEV DISABIL, V26, P359, DOI 10.1016/j.ridd.2004.09.005 Howlin P, 2004, J CHILD PSYCHOL PSYC, V45, P212, DOI 10.1111/j.1469-7610.2004.00215.x Ivar Lovaas O., 1987, J CONSULT CLIN PSYCH, V55, P3, DOI DOI 10.1037//0022-006X.55.13 Kelley E, 2010, RES AUTISM SPECT DIS, V4, P526, DOI 10.1016/j.rasd.2009.12.001 Kelley E, 2006, J AUTISM DEV DISORD, V36, P807, DOI 10.1007/s10803-006-0111-4 LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 VENTER A, 1992, J CHILD PSYCHOL PSYC, V33, P489, DOI 10.1111/j.1469-7610.1992.tb00887.x Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947 Luyster R, 2005, DEV NEUROPSYCHOL, V27, P311, DOI 10.1207/s15326942dn2703_2 Mraz KD, 2009, J CHILD NEUROL, V24, P833, DOI 10.1177/0883073808331345 MUNDY P, 1993, AM J MENT RETARD, V97, P381 OLDFIELD RC, 1971, NEUROPSYCHOLOGIA, V9, P97, DOI 10.1016/0028-3932(71)90067-4 Piven J, 1996, J AM ACAD CHILD PSY, V35, P523, DOI 10.1097/00004583-199604000-00019 RUTTER M, 1970, SEMIN PSYCHIAT, V2, P435 Sallows GO, 2005, AM J MENT RETARD, V110, P417, DOI 10.1352/0895-8017(2005)110[417:IBTFCW]2.0.CO;2 Saulnier CA, 2007, J AUTISM DEV DISORD, V37, P788, DOI 10.1007/s10803-006-0288-6 Seltzer MM, 2004, MENT RETARD DEV D R, V10, P234, DOI 10.1002/mrdd.20038 Semel E., 2003, CLIN EVALUATION LANG, V4th Sigman M, 1999, MONOGR SOC RES CHILD, V64, P1, DOI 10.1111/1540-5834.00002 Sparrow S., 1985, VINELAND ADAPTIVE BE Sutera S, 2007, J AUTISM DEV DISORD, V37, P98, DOI 10.1007/s10803-006-0340-6 SZATMARI P, 1989, DEV MED CHILD NEUROL, V31, P709 Turner LM, 2007, J CHILD PSYCHOL PSYC, V48, P793, DOI 10.1111/j.1469-7610.2007.01744.x Watt N, 2008, J AUTISM DEV DISORD, V38, P1518, DOI 10.1007/s10803-007-0532-8 Wechsler D, 1999, WECHSLER ABBREVIATED Zappella M., 1999, INFANTO, V7, P61 NR 41 TC 51 Z9 53 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-9630 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD FEB PY 2013 VL 54 IS 2 BP 195 EP 205 DI 10.1111/jcpp.12037 PG 11 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 075FH UT WOS:000313868700010 PM 23320807 ER PT J AU Georgiades, S Szatmari, P Boyle, M Hanna, S Duku, E Zwaigenbaum, L Bryson, S Fombonne, E Volden, J Mirenda, P Smith, I Roberts, W Vaillancourt, T Waddell, C Bennett, T Thompson, A AF Georgiades, Stelios Szatmari, Peter Boyle, Michael Hanna, Steven Duku, Eric Zwaigenbaum, Lonnie Bryson, Susan Fombonne, Eric Volden, Joanne Mirenda, Pat Smith, Isabel Roberts, Wendy Vaillancourt, Tracy Waddell, Charlotte Bennett, Teresa Thompson, Ann CA Pathways ASD Study Team TI Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Symptomatology; Autistic disorder; Classification; Diagnosis; DSM ID SYMPTOM MODEL; CLASSIFICATION; DIMENSIONS; CATEGORIES; SEVERITY; CRITERIA; SUBTYPES; ISSUES; DSM-5 AB Background: Autism spectrum disorder (ASD) is characterized by notable phenotypic heterogeneity, which is often viewed as an obstacle to the study of its etiology, diagnosis, treatment, and prognosis. On the basis of empirical evidence, instead of three binary categories, the upcoming edition of the DSM 5 will use two dimensions social communication deficits (SCD) and fixated interests and repetitive behaviors (FIRB) for the ASD diagnostic criteria. Building on this proposed DSM 5 model, it would be useful to consider whether empirical data on the SCD and FIRB dimensions can be used within the novel methodological framework of Factor Mixture Modeling (FMM) to stratify children with ASD into more homogeneous subgroups. Methods: The study sample consisted of 391 newly diagnosed children (mean age 38.3 months; 330 males) with ASD. To derive subgroups, data from the Autism Diagnostic Interview-Revised indexing SCD and FIRB were used in FMM; FMM allows the examination of continuous dimensions and latent classes (i.e., categories) using both factor analysis (FA) and latent class analysis (LCA) as part of a single analytic framework. Results: Competing LCA, FA, and FMM models were fit to the data. On the basis of a set of goodness-of-fit criteria, a two-factor/three-class factor mixture model provided the overall best fit to the data. This model describes ASD using three subgroups/classes (Class 1: 34%, Class 2: 10%, Class 3: 56% of the sample) based on differential severity gradients on the SCD and FIRB symptom dimensions. In addition to having different symptom severity levels, children from these subgroups were diagnosed at different ages and were functioning at different adaptive, language, and cognitive levels. Conclusions: Study findings suggest that the two symptom dimensions of SCD and FIRB proposed for the DSM 5 can be used in FMM to stratify children with ASD empirically into three relatively homogeneous subgroups. C1 [Georgiades, Stelios; Szatmari, Peter; Boyle, Michael; Hanna, Steven; Duku, Eric; Bennett, Teresa; Thompson, Ann] McMaster Univ, Dept Psychiat & Behav Neurosci, Hamilton, ON L8N 3Z5, Canada. [Georgiades, Stelios; Szatmari, Peter; Boyle, Michael; Hanna, Steven; Duku, Eric; Bennett, Teresa; Thompson, Ann] McMaster Univ, Offord Ctr Child Studies, Hamilton, ON L8N 3Z5, Canada. [Zwaigenbaum, Lonnie; Volden, Joanne] Univ Alberta, Dept Pediat, Edmonton, AB, Canada. [Bryson, Susan; Smith, Isabel] Dalhousie Univ, Dept Pediat, Halifax, NS, Canada. [Bryson, Susan; Smith, Isabel] Dalhousie Univ, Dept Psychol, Halifax, NS, Canada. [Bryson, Susan; Smith, Isabel] IWK Hlth Ctr, Halifax, NS, Canada. [Fombonne, Eric] McGill Univ, Dept Psychiat, Montreal, PQ, Canada. [Fombonne, Eric] McGill Univ, Dept Pediat, Montreal, PQ H3A 2T5, Canada. [Mirenda, Pat] Univ British Columbia, Dept Educ & Counselling Psychol & Special Educ, Vancouver, BC V5Z 1M9, Canada. [Roberts, Wendy] Univ Toronto, Dept Pediat, Toronto, ON, Canada. [Roberts, Wendy] Univ Toronto, Bloorview Res Inst, Holland Bloorview Kids Rehabil Hosp, Toronto, ON, Canada. [Vaillancourt, Tracy] Univ Ottawa, Fac Educ, Ottawa, ON, Canada. [Waddell, Charlotte] Simon Fraser Univ, Fac Hlth Sci, Vancouver, BC, Canada. RP Szatmari, P (reprint author), McMaster Univ, Offord Ctr Child Studies, Chedoke Site,Patterson Bldg,1200 Main St W, Hamilton, ON L8N 3Z5, Canada. EM szatmar@mcmaster.ca RI Vaillancourt, Tracy/F-8949-2015 FU Canadian Institutes of Health Research; Autism Speaks; Government of British Columbia; Alberta Innovates Health Solutions; Sinneave Family Foundation; Autism Research Training (ART) fellowship by the Canadian Institutes of Health Research FX This study was supported by the Canadian Institutes of Health Research, Autism Speaks, the Government of British Columbia, the Alberta Innovates Health Solutions, and the Sinneave Family Foundation. Stelios Georgiades is supported by an Autism Research Training (ART) fellowship by the Canadian Institutes of Health Research. The authors thank all the families who participated in the Pathways in ASD study. The authors also acknowledge the members of the Pathways in ASD Study Team. These members had equal contribution to the study and are listed here alphabetically: Liliana Abruzzese, Megan Alexander, Susan Bauld, Ainsley Boudreau, Colin Andrew Campbell, Mike Chalupka, Lorna Colli, Melanie Couture, Bev DaSilva, Vikram Dua, Miriam Elfert, Lara El-Khatib, Lindsay Fleming, Kristin Fossum, Nancy Garon, Shareen Holly, Stephanie Jull, Karen Kalynchuk, Kathryne MacLeod, Preetinder Narang, Julianne Noseworthy, Irene O'Connor, Kaori Ohashi, Sarah Peacock, Teri Phillips, Sara Quirke, Katie Rinald, Jennifer Saracino, Cathryn Schroeder, Cody Shepherd, Rebecca Simon, Mandy Steiman, Richard Stock, Benjamin Taylor, Lee Tidmarsh, Larry Tuff, Kathryn Vaillancourt, Stephen Wellington, Isabelle Yun, and Li Hong Zhong. 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D., 2011, J AUTISM DEV DISORD, V42, P191 Witwer AN, 2008, J AUTISM DEV DISORD, V38, P1611, DOI 10.1007/s10803-008-0541-2 Zimmerman I., 2002, PRESCHOOL LANGUAGE S, V4th NR 43 TC 21 Z9 21 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-9630 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD FEB PY 2013 VL 54 IS 2 BP 206 EP 215 DI 10.1111/j.1469-7610.2012.02588.x PG 10 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 075FH UT WOS:000313868700011 PM 22862778 ER PT J AU Hus, V Bishop, S Gotham, K Huerta, M Lord, C AF Hus, Vanessa Bishop, Somer Gotham, Katherine Huerta, Marisela Lord, Catherine TI Factors influencing scores on the social responsiveness scale SO JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY LA English DT Article DE Social Responsiveness Scale; autism spectrum disorder; behavior problems; age; language level ID PERVASIVE DEVELOPMENTAL DISORDERS; AUTISM SPECTRUM DISORDERS; GENERAL-POPULATION; TRAITS; CHILDREN; IMPAIRMENT; VALIDATION; MULTIPLEX; SEVERITY; BEHAVIOR AB Background: The Social Responsiveness Scale (SRS) is a parent-completed screening questionnaire often used to measure autism spectrum disorders (ASD) severity. Although child characteristics are known to influence scores from other ASD-symptom measures, as well as parent-questionnaires more broadly, there has been limited consideration of how non-ASD-specific factors may affect interpretation of SRS scores. Previous studies have explored effects of behavior problems on SRS specificity, but have not addressed influences on the use of the SRS as a quantitative measure of ASD-symptoms. Method: Raw scores (SRS-Raw) from parent-completed SRS were analyzed for 2,368 probands with ASD and 1,913 unaffected siblings. Regression analyses were used to assess associations between SRS scores and demographic, language, cognitive, and behavior measures. Results: For probands, higher SRS-Raw were associated with greater non-ASD behavior problems, higher age, and more impaired language and cognitive skills, as well as scores from other parent report measures of social development and ASD-symptoms. For unaffected siblings, having more behavior problems predicted higher SRS-Raw; male gender, younger age, and poorer adaptive social and expressive communication skills also showed small, but significant effects. Conclusions: When using the SRS as a quantitative phenotype measure, the influence of behavior problems, age, and expressive language or cognitive level on scores must be considered. If effects of non-ASD-specific factors are not addressed, SRS scores are more appropriately interpreted as indicating general levels of impairment, than as severity of ASD-specific symptoms or social impairment. Additional research is needed to consider how these factors influence the SRS sensitivity and specificity in large, clinical samples including individuals with disorders other than ASD. C1 [Hus, Vanessa; Gotham, Katherine] Univ Michigan, Dept Psychol, Ann Arbor, MI 48109 USA. [Bishop, Somer] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH USA. [Huerta, Marisela; Lord, Catherine] Weill Cornell Med Sch, Dept Psychiat, New York, NY USA. RP Hus, V (reprint author), 530 Church St, Ann Arbor, MI 48109 USA. EM vhus@umich.edu FU Simons Foundation; Autism Speaks; NICHD [R01HD065277]; NIMH [R01MH081873, RC1 MH089721] FX This research was supported by graduate fellowships from the Simons Foundation and Autism Speaks to VH, NICHD grant R01HD065277 to SB, and Simons Foundation and NIMH grants R01MH081873 and RC1 MH089721 to CL. We gratefully acknowledge Andrew Pickles for statistical consultation, Nicole Saghy for help preparing this manuscript, and the SSC families and principal investigators (A. Beaudet, R. Bernier, J. Constantino, E. Cook, E. Fombonne, D. Geschwind, D. Grice, A. Klin, D. Ledbetter, C. Martin, D. Martin, R. Maxim, J. Miles, O. Ousley, B. Peterson, J. Piggot, C. Saulnier, M. State, W. Stone, J. Sutcliffe, C. Walsh, E. Wijsman). We appreciate obtaining access to phenotypic data on SFARI Base. Approved researchers can obtain the SSC dataset described in this study (https://ordering.base.sfari.org/similar to browse_collection/archive[sfari_collection_v12]/ui:-view()) by applying at https://base.sfari.org. CR Achenbach TM, 2001, MANUAL ASEBA SCH AGE Aylward GP, 2009, J DEV BEHAV PEDIATR, V30, P169, DOI 10.1097/DBP.0b013e31819f1c3e Bolte S, 2008, AUTISM RES, V1, P354, DOI 10.1002/aur.49 Charman T, 2007, BRIT J PSYCHIAT, V191, P554, DOI 10.1192/bjp.bp.107.040196 Cohen J., 1988, STAT POWER ANAL BEHA, V2nd Constantino J. 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M., 1992, DESIGNING CONDUCTING Rutter M., 2003, AUTISM DIAGNOSTIC IN Sparrow SS, 2005, VINELAND ADAPTIVE BE Veenstra-VanderWeele J, 2011, J AM ACAD CHILD PSY, V50, P326, DOI 10.1016/j.jaac.2011.01.016 Virkud YV, 2009, AM J MED GENET B, V150B, P328, DOI 10.1002/ajmg.b.30810 Warren Z, 2012, AUTISM RES, V5, P31, DOI 10.1002/aur.230 NR 32 TC 24 Z9 24 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0021-9630 J9 J CHILD PSYCHOL PSYC JI J. Child Psychol. Psychiatry PD FEB PY 2013 VL 54 IS 2 BP 216 EP 224 DI 10.1111/j.1469-7610.2012.02589.x PG 9 WC Psychology, Developmental; Psychiatry; Psychology SC Psychology; Psychiatry GA 075FH UT WOS:000313868700012 PM 22823182 ER PT J AU Kang, S O'Reilly, M Rojeski, L Blenden, K Xu, ZW Davis, T Sigafoos, J Lancioni, G AF Kang, Soyeon O'Reilly, Mark Rojeski, Laura Blenden, Kara Xu, Ziwei Davis, Tonya Sigafoos, Jeff Lancioni, Giulio TI Effects of tangible and social reinforcers on skill acquisition, stereotyped behavior, and task engagement in three children with autism spectrum disorders SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Autism spectrum disorders; Task engagement; Tangible reinforcement; Social reinforcement; Skill acquisition; Stereotyped behavior ID PREFERENCE ASSESSMENTS; INDIVIDUALS; STIMULI AB Children with autism spectrum disorders (ASDs) are more likely to engage in inappropriate play (e.g., stereotypy, repetitive behavior) with their preferred items given as reinforcers. Considering the stereotyped behavior is a core characteristic of ASD aimed to reduce, it is necessary to identify alternative reinforcers that does riot encourage problematic behavior as well as is still effective. In this respect, the present study evaluates a possible alternative reinforcer: social interaction. The study compared the effects of preferred tangible and social reinforcers on skill acquisition, stereotyped behavior, and task engagement during the instruction period in three children, 3-8 years of age, with ASDs. This study had two phases: in the first phase, preference assessments and reinforcer assessments were conducted to identify the most highly preferred items and relative preferred type of reinforcers. In the second phase, teachers taught the target skills using two different reinforcers and the three dependent variables were compared between two reinforcer conditions. The results suggest that the reinforcers were equally effective; however tangible reinforcers resulted in high levels of stereotyped behavior. The results indicate that social reinforcers can be efficient reinforcers for the population. The study discussed making an efficient reinforcement decision for individuals with ASD. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Kang, Soyeon] Univ Texas Austin, Dept Special Educ, Meadows Ctr Preventing Educ Risk, Austin, TX 78712 USA. [Davis, Tonya] Baylor Univ, Waco, TX 76798 USA. [Sigafoos, Jeff] Victoria Univ Wellington, Wellington, New Zealand. [Lancioni, Giulio] Univ Bari, I-70121 Bari, Italy. RP Kang, S (reprint author), Univ Texas Austin, Dept Special Educ, Meadows Ctr Preventing Educ Risk, 1912 Speedway STOP D5300, Austin, TX 78712 USA. EM syk77@austin.utexas.edu CR DeLeon IG, 2001, J APPL BEHAV ANAL, V34, P463, DOI 10.1901/jaba.2001.34-463 Dube WV, 2004, BEHAV ANALYST, V27, P197 FERRARI M, 1981, J APPL BEHAV ANAL, V14, P339, DOI 10.1901/jaba.1981.14-339 Hausman N., 2009, EDUC TREAT CHILD, V32, P77, DOI [10.1353/etc.0.0051, DOI 10.1353/ETC.0.0051] Kennedy CH, 2000, J APPL BEHAV ANAL, V33, P559, DOI 10.1901/jaba.2000.33-559 Koegel RL, 2009, J AUTISM DEV DISORD, V39, P1240, DOI 10.1007/s10803-009-0732-5 Nuernberger JE, 2012, BEHAV INTERVENT, V27, P33, DOI 10.1002/bin.1336 Rapp JT, 2004, J APPL BEHAV ANAL, V37, P481, DOI 10.1901/jaba.2004.37-481 Rodriguez NM, 2012, J APPL BEHAV ANAL, V45, P1, DOI 10.1901/jaba.2012.45-1 Roscoe EM, 1999, J APPL BEHAV ANAL, V32, P479, DOI 10.1901/jaba.1999.32-479 Smaby K, 2007, BEHAV INTERVENT, V22, P311, DOI 10.1002/bin.242 Tarbox RSF, 2007, J APPL BEHAV ANAL, V40, P761, DOI 10.1901/jaba.2007.761-765 White P., 2010, RES AUTISM SPECT DIS, V5, P784 NR 13 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 2013 VL 34 IS 2 BP 739 EP 744 DI 10.1016/j.ridd.2012.10.007 PG 6 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 076YI UT WOS:000313994700003 PM 23220050 ER PT J AU Gonzalez-Gadea, ML Baez, S Torralva, T Castellanos, FX Rattazzi, A Bein, V Rogg, K Manes, F Ibanez, A AF Luz Gonzalez-Gadea, Maria Baez, Sandra Torralva, Teresa Castellanos, Francisco Xavier Rattazzi, Alexia Bein, Victoria Rogg, Katharina Manes, Facundo Ibanez, Agustin TI Cognitive variability in adults with ADHD and AS: Disentangling the roles of executive functions and social cognition SO RESEARCH IN DEVELOPMENTAL DISABILITIES LA English DT Article DE Attention-deficit hyperactivity disorder; Asperger Syndrome; Social cognition; Executive functions; Theory of mind; Inter-individual variability; Cognitive heterogeneity ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; INTRA-SUBJECT VARIABILITY; CARD SORTING TEST; ASPERGER-SYNDROME; DECISION-MAKING; WORKING-MEMORY; INTRAINDIVIDUAL VARIABILITY; EMOTION RECOGNITION AB Attention-deficit/hyperactivity disorder (ADHD) and Asperger's Syndrome (AS) share a heterogeneous cognitive profile. Studies assessing executive functions (EF) and social cognition in both groups have found preserved and impaired performances. These inconsistent findings would be partially explained by the cognitive variability reported in these disorders. First, the present study explored the inter-individual variability in EF and social cognition in both patient groups. Second, we compared differential characteristics and commonalities in the cognitive profiles of EF and social cognition between ADHD, AS and control adults. We assessed 22 patients with ADHD, 23 adults with AS and 21 matched typically developing subjects using different measures of EF (working memory, cognitive flexibility and multitasking) and social cognition (theory of mind and decision-making). Group comparisons and multiple case series analyses (MCSA) were conducted. The between-group comparisons showed an EF deficit in working memory in ADHD and a theory of mind (ToM) impairment in AS. The MCSA evidenced that, compared to controls, ADHD patients had a higher inter-individual variability in EF, while individuals with AS had a more heterogeneous profile in social cognition tasks compared to both groups. Finally, the AS and ADHD groups presented higher task-related variability compared to controls and shared a common heterogeneous profile in EF. This is the first study to compare variability in EF and social cognition profiles of ADHD and AS. We propose that heterogeneity in EF performance is a link between ADHD and AS which may explain the overlap of symptomatology between both diagnoses. In addition, patients with AS seem to show a unique heterogeneous profile in ToM which may explain the low probability of finding AS symptoms in patients with ADHD. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Luz Gonzalez-Gadea, Maria; Baez, Sandra; Torralva, Teresa; Manes, Facundo; Ibanez, Agustin] Inst Cognit Neurol INECO, Lab Expt Psychol & Neurosci LPEN, Buenos Aires, DF, Argentina. [Luz Gonzalez-Gadea, Maria; Baez, Sandra; Ibanez, Agustin] Natl Sci & Tech Res Council CONICET, Buenos Aires, DF, Argentina. [Luz Gonzalez-Gadea, Maria; Ibanez, Agustin] Univ Nacl Cordoba UNC, Fac Chem Sci, Cordoba, Argentina. [Torralva, Teresa; Manes, Facundo] Favaloro Univ, Inst Neurociences, Buenos Aires, DF, Argentina. [Castellanos, Francisco Xavier] NYU, Langone Med Ctr, Ctr Child Study, New York, NY USA. [Castellanos, Francisco Xavier] Nathan S Kline Inst Psychiat Res, Orangeburg, NY USA. [Rattazzi, Alexia; Bein, Victoria] PANAACEA, Buenos Aires, DF, Argentina. [Rogg, Katharina] Univ Wurzburg, Wurzburg, Germany. [Ibanez, Agustin] Univ Diego Portales, Lab Cognit & Social Neurosci, Santiago, Chile. RP Ibanez, A (reprint author), Pacheco de Melo 1854-60,C1126AAB, Buenos Aires, DF, Argentina. 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Dev. Disabil. PD FEB PY 2013 VL 34 IS 2 BP 817 EP 830 DI 10.1016/j.ridd.2012.11.009 PG 14 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 076YI UT WOS:000313994700012 PM 23220737 ER PT J AU Lugnegard, T Hallerback, MU Hjarthag, F Gillberg, C AF Lugnegard, Tove Hallerback, Maria Unenge Hjarthag, Fredrik Gillberg, Christopher TI Social cognition impairments in Asperger syndrome and schizophrenia SO SCHIZOPHRENIA RESEARCH LA English DT Article DE Social cognition; Theory of mind; Asperger syndrome; Schizophrenia ID HIGH-FUNCTIONING AUTISM; NEGATIVE SYMPTOMS; MENTAL STATES; NEURODEVELOPMENTAL HYPOTHESIS; 1ST-EPISODE SCHIZOPHRENIA; INTENTIONAL MOVEMENT; SPECTRUM DISORDERS; ANIMATED SHAPES; MIND; ATTRIBUTION AB Social cognition impairments are well described in both autism spectrum disorders, including Asperger syndrome (AS), and in schizophrenia spectrum disorders. However, little is known about whether there are differences between the two groups of disorders regarding this ability. The aim of this study was to compare social cognition abilities in AS and schizophrenia. Fifty-three individuals (26 men, 27 women) with a clinical diagnosis of AS, 36 (22 men, 14 women) with a clinical diagnosis of schizophrenic psychosis, and 50 non-clinical controls (19 men, 31 women) participated in the study. Clinical diagnoses were confirmed either by Structured Clinical Interview on DSM-IV diagnosis or the Diagnostic Interview for Social and Communication Disorders. Verbal ability was assessed using the Vocabulary subtest of the WAIS-III. Two social cognition instruments were used: Reading the Mind in the Eyes Test (Eyes Test) and the Animations Task. On the Eyes Test, patients with schizophrenia showed poorer results compared to non-clinical controls; however, no other group differences were seen. Both clinical groups scored significantly lower than the comparison group on the Animations Task. The AS group performed somewhat better than the schizophrenia group. Some differences were accounted for by gender effects. Implicit social cognition impairments appear to be at least as severe in schizophrenia as they are in AS. Possible gender differences have to be taken into account in future research on this topic. (C) 2012 Elsevier B. V. All rights reserved. C1 [Lugnegard, Tove; Hallerback, Maria Unenge; Gillberg, Christopher] Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, Gothenburg, Sweden. [Lugnegard, Tove] Cent Hosp Karlstad, Dept Adult Habilitat, S-65225 Karlstad, Sweden. [Hallerback, Maria Unenge] Cent Hosp Karlstad, Dept Child & Adolescent Psychiat, S-65225 Karlstad, Sweden. [Hjarthag, Fredrik] Karlstad Univ, Dept Psychol, Karlstad, Sweden. RP Lugnegard, T (reprint author), Cent Hosp Karlstad, Dept Adult Habilitat, Drottninggatan 27, S-65225 Karlstad, Sweden. EM tove.lugnegard@liv.se FU County Council of Varmland, Sweden FX This study was supported by grants from the County Council of Varmland, Sweden. The funding source had no further role in study design; in the collection, analysis and interpretation of data; in writing the report; and in the decision to submit the paper for publication. 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Res. PD FEB PY 2013 VL 143 IS 2-3 BP 277 EP 284 DI 10.1016/j.schres.2012.12.001 PG 8 WC Psychiatry SC Psychiatry GA 072GX UT WOS:000313659000007 PM 23266067 ER PT J AU Adams, JB Audhya, T McDonough-Means, S Rubin, RA Quig, D Geis, E Gehn, E Loresto, M Mitchell, J Atwood, S Barnhouse, S Lee, W AF Adams, James B. Audhya, Tapan McDonough-Means, Sharon Rubin, Robert A. Quig, David Geis, Elizabeth Gehn, Eva Loresto, Melissa Mitchell, Jessica Atwood, Sharon Barnhouse, Suzanne Lee, Wondra TI Toxicological Status of Children with Autism vs. Neurotypical Children and the Association with Autism Severity SO BIOLOGICAL TRACE ELEMENT RESEARCH LA English DT Article DE Autism; Toxic metals; Mercury; Lead; Thallium; Tungsten ID ENVIRONMENTAL MERCURY RELEASE; SPECTRUM DISORDERS; OXIDATIVE STRESS; BIOMARKERS; EXCRETION; TOXICITY; HAIR; METHYLATION; EXPOSURE; CHLORIDE AB This study investigates both the level of toxic metals in children with autism and the possible association of those toxic metals with autism severity. This study involved 55 children with autism ages 5-16 years compared to 44 controls with similar age and gender. The study included measurements of toxic metals in whole blood, red blood cells (RBC), and urine. The autism group had higher levels of lead in RBC (+41 %, p = 0.002) and higher urinary levels of lead (+74 %, p = 0.02), thallium (+77 %, p = 0.0001), tin (+115 %, p = 0.01), and tungsten (+44 %, p = 0.00005). However, the autism group had slightly lower levels of cadmium in whole blood (-19 %, p = 0.003). A stepwise, multiple linear regression analysis found a strong association of levels of toxic metals with variation in the degree of severity of autism for all the severity scales (adjusted R (2) of 0.38-0.47, p < 0.0003). Cadmium (whole blood) and mercury (whole blood and RBC) were the most consistently significant variables. Overall, children with autism have higher average levels of several toxic metals, and levels of several toxic metals are strongly associated with variations in the severity of autism for all three of the autism severity scales investigated. 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Trace Elem. Res. PD FEB PY 2013 VL 151 IS 2 BP 171 EP 180 DI 10.1007/s12011-012-9551-1 PG 10 WC Biochemistry & Molecular Biology; Endocrinology & Metabolism SC Biochemistry & Molecular Biology; Endocrinology & Metabolism GA 073IE UT WOS:000313735900002 PM 23192845 ER PT J AU Al-Farsi, YM Waly, MI Al-Sharbati, MM Al-Shafaee, MA Al-Farsi, OA Al-Khaduri, MM Gupta, I Ouhtit, A Al-Adawi, S Al-Said, MF Deth, RC AF Al-Farsi, Yahya M. Waly, Mostafa I. Al-Sharbati, Marwan M. Al-Shafaee, Mohammed A. Al-Farsi, Omar A. Al-Khaduri, Maha M. Gupta, Ishita Ouhtit, Allal Al-Adawi, Samir Al-Said, Mona F. Deth, Richard C. TI Levels of Heavy Metals and Essential Minerals in Hair Samples of Children with Autism in Oman: a Case-Control Study SO BIOLOGICAL TRACE ELEMENT RESEARCH LA English DT Article DE Autism; Heavy metals; Essential minerals; Hair; Oman; Case-control ID SPECTRUM DISORDERS; TRACE-ELEMENTS; OXIDATIVE STRESS; GULF-WAR; PREVALENCE; MERCURY; DIAGNOSIS; ZINC; MAGNESIUM; SELENIUM AB Toxic levels of heavy metals and low levels of essential minerals have been suggested to play a critical role in the pathogenesis of autism spectrum disorders (ASD). This study documents the levels of heavy metals and essential minerals in hair samples of children with ASD in Muscat, the urbanized capital of Oman, Muscat. The study included 27 children with ASD and 27 matched non-ASD controls. Parental interviews were held and dietary intake questionnaires completed in conjunction with the collection of hair samples. Analysis of heavy metals and essential minerals was carried out by inductively coupled plasma mass spectrometry. Chi-square analysis and non-parametric Fisher's exact tests were used to assess statistical significance. Children with ASD had significantly higher levels of all 11 analyzed heavy metals in their hair samples (P < 0.05), ranging from 150 to 365 % of control levels. ASD children also had significantly higher levels of essential minerals sulfur, sodium, magnesium, potassium, zinc, and iron, but lower levels of calcium and copper in their hair samples. This study corroborates data from previous studies in different parts of the world indicating the presence of elevated levels of heavy metals and selective depletion of essential minerals in the hair of children with ASD. C1 [Al-Farsi, Yahya M.; Al-Shafaee, Mohammed A.; Al-Farsi, Omar A.] Sultan Qaboos Univ, Dept Family Med & Publ Hlth, Coll Med & Hlth Sci, Al Khoud 123, Oman. [Waly, Mostafa I.] Sultan Qaboos Univ, Dept Nutr & Food Sci, Coll Agr & Marines Sci, Muscat, Oman. [Al-Sharbati, Marwan M.; Al-Adawi, Samir] Sultan Qaboos Univ, Dept Behav Med, Coll Med & Hlth Sci, Muscat, Oman. [Al-Khaduri, Maha M.] Sultan Qaboos Univ, Dept Obstet & Gynecol, Coll Med & Hlth Sci, Muscat, Oman. [Gupta, Ishita; Ouhtit, Allal] Sultan Qaboos Univ, Dept Genet, Coll Med & Hlth Sci, Muscat, Oman. [Al-Said, Mona F.] Sultan Qaboos Univ, Dept Early Childhood Educ, Coll Educ, Muscat, Oman. [Al-Farsi, Yahya M.] Boston Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA USA. [Waly, Mostafa I.] Univ Alexandria, High Inst Publ Hlth, Dept Nutr, Alexandria, Egypt. [Deth, Richard C.] Northeastern Univ, Sch Pharm, Bouve Coll Hlth Sci, Boston, MA 02115 USA. RP Al-Farsi, YM (reprint author), Sultan Qaboos Univ, Dept Family Med & Publ Hlth, Coll Med & Hlth Sci, POB 35, Al Khoud 123, Oman. EM ymfarsi@squ.edu.om FU College of Medicine and Health Sciences, Sultan Qaboos University [SR/MED/FMCO/11/01, IG/AGR/Food/10/01] FX This study was supported by the Internal Grant Fund (IG/AGR/Food/10/01) and the Strategic Research Fund offered by His Majesty Sultan of Oman (SR/MED/FMCO/11/01), College of Medicine and Health Sciences, Sultan Qaboos University. CR Abdullah MM, 2012, J AUTISM DEV DISORD, V42, P929, DOI 10.1007/s10803-011-1318-6 Adams JB, 2007, J TOXICOL ENV HEAL A, V70, P1046, DOI 10.1080/15287390601172080 Al-Ayadhi Laila Y, 2005, Neurosciences (Riyadh), V10, P213 Al-Farsi YM, 2011, RES AUTISM SPECT DIS, V5, P1549, DOI 10.1016/j.rasd.2011.02.018 Al-Farsi YM, 2011, J AUTISM DEV DISORD, V41, P821, DOI 10.1007/s10803-010-1094-8 Al-Farsi YM, 2012, NUTRITION IN PRESS Al-Yousuf MH, 2000, SCI TOTAL ENVIRON, V256, P87, DOI 10.1016/S0048-9697(99)00363-0 American Psychiatric Association, 2000, DIAGN STAT MAN MENT Baron-Cohen S, 2009, BRIT J PSYCHIAT, V194, P500, DOI 10.1192/bjp.bp.108.059345 Bernard S, 2001, MED HYPOTHESES, V56, P462, DOI 10.1054/mehy.2000.1281 Blaurock-Busch Eleonor, 2011, Maedica (Buchar), V6, P247 Carneiro MFH, 2011, BIOL TRACE ELEM RES, V143, P815, DOI 10.1007/s12011-010-8947-z CDC (Cent. Dis. 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Trace Elem. Res. PD FEB PY 2013 VL 151 IS 2 BP 181 EP 186 DI 10.1007/s12011-012-9553-z PG 6 WC Biochemistry & Molecular Biology; Endocrinology & Metabolism SC Biochemistry & Molecular Biology; Endocrinology & Metabolism GA 073IE UT WOS:000313735900003 PM 23188679 ER PT J AU Mackay, DF Smith, GCS Dobbie, R Cooper, SA Pell, JP AF Mackay, D. F. Smith, G. C. S. Dobbie, R. Cooper, S-A Pell, J. P. TI Obstetric factors and different causes of special educational need: retrospective cohort study of 407 503 schoolchildren SO BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY LA English DT Article DE Achievement; educational; learning disabilities; low birthweight; fetal growth retardation; pregnancy; premature birth ID LOW-BIRTH-WEIGHT; GESTATIONAL-AGE; SCHOOL PERFORMANCE; CHILDREN BORN; INTELLECTUAL-PERFORMANCE; BEHAVIORAL OUTCOMES; PRETERM BIRTH; FOLLOW-UP; METAANALYSIS; AUTISM AB Objective To determine whether relationships with gestational age and birthweight centile vary between specific causes of special educational need (SEN). Design Retrospective cohort study. Setting Scotland. Population A cohort of 407 503 schoolchildren. Methods Polytomous logistic regression was used to examine the risk of each cause of SEN across the spectrum of gestation at delivery and birthweight centile, adjusting for potential confounding factors. Main outcome measures Crude and adjusted odds ratios and confidence intervals. Results Of the 19 821 children with SEN, 557 (2.8%) had sensory impairments, 812 (4.1%) had physical or motor disabilities, 876 (4.4%) had language impairments, 2823 (14.2%) had social, emotional, or behavioural problems, 7018 (35.4%) had intellectual disabilities, 4404 (22.2%) had specific learning difficulties, and 1684 (8.5%) autistic spectrum disorder (ASD). Extreme preterm delivery (at 2427 weeks of gestation) was a strong predictor of sensory (adjusted OR 23.64, 95% CI 12.0346.45), physical or motor (adjusted OR 29.69, 95% CI 17.4950.40), and intellectual (adjusted OR 11.67, 95% CI 8.4616.10) impairments, with dose relationships across the range of gestation. Similarly, birthweight below the third centile was associated with sensory (adjusted OR 2.85, 95% CI 2.043.99), physical or motor (adjusted OR 2.47, 95% CI 1.823.37), and intellectual (adjusted OR 2.67, 95% CI 2.412.96) impairments. Together, gestation and birthweight centile accounted for 24.0% of SEN arising from sensory impairment, 34.3% arising from physical or motor disabilities, and 26.6% arising from intellectual disabilities. Obstetric factors were less strongly associated with specific learning difficulties and social or emotional problems, and there were no significant associations with ASD. Conclusions The association between gestation and birthweight centile and overall risk of SEN is largely driven by very strong associations with sensory, physical or motor impairments, and intellectual impairments. C1 [Mackay, D. F.; Cooper, S-A; Pell, J. P.] Univ Glasgow, Inst Hlth & Wellbeing, Glasgow G12 8RZ, Lanark, Scotland. [Smith, G. C. S.] Univ Cambridge, Dept Obstet & Gynaecol, Cambridge, England. [Dobbie, R.] NHS Scotland, Informat & Stat Div, Edinburgh, Midlothian, Scotland. RP Pell, JP (reprint author), Univ Glasgow, Inst Hlth & Wellbeing, 1 Lilybank Gardens, Glasgow G12 8RZ, Lanark, Scotland. 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Recent findings Clinical perspectives on ASDs continue to evolve. The prevalence of ASDs in the United States continues to rise, and pediatricians are being tasked with the responsibility for universal screening. Further changes in its epidemiology will undoubtedly result from anticipated changes in the diagnostic criteria put forth in the upcoming revision to the Diagnostic and Statistical Manual (5th edition). Although there have been considerable advances in identifying a genetic cause in many more cases, the cause remains elusive in most cases. Recent studies of concordant twins suggest there is a stronger environmental component than previously believed. Research suggests earlier diagnosis may be feasible in some cases, and a new treatment approach has been shown to be effective in very young children. Although there have not been any large-scale advances in the medical treatment, some isolated successes have been reported and other promising therapies are now being investigated. 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PD FEB PY 2013 VL 55 IS 2 BP 100 EP 101 DI 10.1111/dmcn.12075 PG 2 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 073FT UT WOS:000313729600002 PM 23320572 ER PT J AU Hagerman, RJ AF Hagerman, Randi J. TI Epilepsy drives autism in neurodevelopmental disorders SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY LA English DT Editorial Material ID FRAGILE-X-SYNDROME; MINOCYCLINE C1 [Hagerman, Randi J.] Univ Calif Davis Hlth Syst, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA USA. [Hagerman, Randi J.] Univ Calif Davis Hlth Syst, Dept Pediat, Sacramento, CA USA. RP Hagerman, RJ (reprint author), Univ Calif Davis Hlth Syst, Med Invest Neurodev Disorders MIND Inst, Sacramento, CA USA. CR Bernard P, 2012, 42 ANN M SOC NEUR NE Berry-Kravis E, 2010, AJIDD-AM J INTELLECT, V115, P461, DOI [10.1352/1944-7558-115.6.461, 10.1352/194475581156461] Berry-Kravis EM, 2012, SCI TRANSL MED, V4, DOI 10.1126/scitranslmed.3004214 Bilousova TV, 2009, J MED GENET, V46, P94, DOI 10.1136/jmg.2008.061796 Chen YC, 2010, HUM MOL GENET, V19, P196, DOI 10.1093/hmg/ddp479 Chonchaiya W, 2012, HUM GENET, V131, P581, DOI 10.1007/s00439-011-1106-6 Fatemi SH, 2011, NEUROPHARMACOLOGY, V60, P1221, DOI 10.1016/j.neuropharm.2010.11.011 Iossifov I, 2012, NEURON, V74, P285, DOI 10.1016/j.neuron.2012.04.009 Jacquemont S, 2011, SCI TRANSL MED, V3, DOI 10.1126/scitranslmed.3001708 Paribello C, 2010, BMC NEUROL, V10, DOI 10.1186/1471-2377-10-91 Qureshi IA, 2010, NEUROBIOL DIS, V39, P53, DOI 10.1016/j.nbd.2010.02.005 Van Eeghen AM, 2013, DEV MED CHILD NEUROL, V55, P146, DOI 10.1111/dmcn.12044 Wilczynski GM, 2008, J CELL BIOL, V180, P1021, DOI 10.1083/jcb.200708213 NR 13 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0012-1622 J9 DEV MED CHILD NEUROL JI Dev. Med. Child Neurol. PD FEB PY 2013 VL 55 IS 2 BP 101 EP 102 DI 10.1111/dmcn.12071 PG 2 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 073FT UT WOS:000313729600003 PM 23320573 ER PT J AU Walsh, KS Velez, JI Kardel, PG Imas, DM Muenke, M Packer, RJ Castellanos, FX Acosta, MT AF Walsh, Karin S. Velez, Jorge I. Kardel, Peter G. Imas, Daniel M. Muenke, Maximilian Packer, Roger J. Castellanos, Francisco X. Acosta, Maria T. TI Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1 SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY LA English DT Article ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT-HYPERACTIVITY DISORDER; COGNITIVE DEFICITS; CHILDREN; ADHD; ASSOCIATION; BEHAVIOR; SUSCEPTIBILITY; SUBTYPES; GENE AB Aim Difficulties in neurocognition and social interaction are the most prominent causes of morbidity and long-term disability in children with neurofibromatosis type 1 (NF1). Symptoms of attention-deficithyperactivity disorder (ADHD) have also been extensively recognized in NF1. However, systematic evaluation of symptoms of autism spectrum disorder (ASD) in children with NF1 has been limited. Method We present a retrospective, cross-sectional study of the prevalence of symptoms of ASD and ADHD and their relationship in a consecutive series of 66 patients from our NF1 clinic. The Social Responsiveness Scale and the Vanderbilt ADHD Diagnostic Parent Rating Scale were used to assess symptoms of ASD and ADHD. Results Sixty-six participants (42 males, 24 females) were included in this study. Mean age at assessment was 10 years 11 months (SD 5y 4mo). Forty percent of our NF1 sample had raised symptom levels reaching clinical significance on the Social Responsiveness Scale (T = 60), and 14% reached levels consistent with those seen in children with ASDs (T = 75). These raised levels were not explained by NF1 disease severity or externalizing/internalizing behavioral disorders. There was a statistically significant relationship between symptoms of ADHD and ASD (?2=9.11, df=1, p=0.003, f=0.56). Particularly salient were the relationships between attention and hyperactivity deficits, with impairments in social awareness and social motivation. Interpretation We found that symptoms of ASD in our NF1 population were raised, consistent with previous reports. Further characterization of the specific ASD symptoms and their impact on daily function is fundamental to the development and implementation of effective interventions in this population, which will probably include a combination of medical and behavioral approaches. C1 [Walsh, Karin S.; Kardel, Peter G.; Imas, Daniel M.; Packer, Roger J.; Acosta, Maria T.] Jennifer & Daniel Gilbert Neurofibromatosis Inst, Washington, DC 20010 USA. [Walsh, Karin S.; Kardel, Peter G.; Imas, Daniel M.; Packer, Roger J.; Acosta, Maria T.] Childrens Natl Med Ctr, Ctr Neurosci & Behav Med, Washington, DC 20010 USA. [Velez, Jorge I.; Muenke, Maximilian; Acosta, Maria T.] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA. [Castellanos, Francisco X.] NYU, Phyllis Green & Randolph Cowen Inst Pediat Neuros, Langone Med Ctr, New York, NY USA. [Castellanos, Francisco X.] Nathan S Kline Inst Psychiat Res, Orangeburg, NY 10962 USA. RP Acosta, MT (reprint author), Jennifer & Daniel Gilbert Neurofibromatosis Inst, 111 Michigan Ave NW, Washington, DC 20010 USA. EM macosta@childrensnational.org CR Acosta MT, 2008, J AM ACAD CHILD PSY, V47, P797, DOI 10.1097/CHI.0b013e318173f70b Acosta MT, 2006, CURR NEUROL NEUROSCI, V6, P136, DOI 10.1007/s11910-996-0036-5 American Psychiatric Association, 2000, DIAGN STAT MAN MENT Arcos-Burgos M, 2010, MOL PSYCHIATR, V15, P1053, DOI 10.1038/mp.2010.6 Barton B, 2004, DEV MED CHILD NEUROL, V46, P553, DOI 10.1017/S0012162204000921 Benjamini Y, 1995, JR STAT SOC B, V57, P389 Centers for Disease Control and Prevention, 2009, MMWR-MORBID MORTAL W, V58, P1 Constantino JN, 2000, J DEV BEHAV PEDIATR, V21, P2 Constantino JN, 2005, SOCIAL RESPONSIVENES Coudé François X, 2007, J Atten Disord, V11, P101, DOI 10.1177/1087054707299398 Grzadzinski R, 2011, J AUTISM DEV DISORD, V41, P1178, DOI 10.1007/s10803-010-1135-3 Gutmann DH, 1997, JAMA-J AM MED ASSOC, V278, P51, DOI 10.1001/jama.278.1.51 Hoza B, 2007, J PEDIATR PSYCHOL, V32, P655, DOI 10.1093/jpepsy/jsm024 Huijbregts SCJ, 2011, BEHAV GENET, V41, P430, DOI 10.1007/s10519-010-9430-5 Hyman SL, 2005, NEUROLOGY, V65, P1037, DOI 10.1212/01.wnl.0000179303.72345.ce Hyman SL, 2006, DEV MED CHILD NEUROL, V48, P973, DOI 10.1017/S0012162206002131 Jain M, 2007, BIOL PSYCHIAT, V61, P1329, DOI 10.1016/j.biopsych.2006.06.026 Johnson NS, 1999, J PEDIATR-US, V134, P767, DOI 10.1016/S0022-3476(99)70296-9 Marui T, 2004, AM J MED GENET B, V131B, P43, DOI 10.1002/ajmg.b.20119 Mbarek O, 1999, AM J MED GENET, V88, P729, DOI 10.1002/(SICI)1096-8628(19991215)88:6<729::AID-AJMG26>3.0.CO;2-Q McQuade JD, 2008, DEV DISABIL RES REV, V14, P320, DOI 10.1002/ddrr.35 North K, 2002, J CHILD NEUROL, V17, P605, DOI 10.1177/088307380201700811 Palacio JD, 2004, J AM ACAD CHILD PSY, V43, P1506, DOI 10.1097/01.chi.0000142279.79805.de Payne JM, 2011, CHILD NEUROPSYCHOL, V17, P313, DOI 10.1080/09297049.2010.542746 Ronald A, 2008, J CHILD PSYCHOL PSYC, V49, P535, DOI 10.1111/j.1469-7610.2007.01857.x Solanto MV, 2009, J ATTEN DISORD, V13, P27, DOI 10.1177/1087054708320403 Suzuki R., PVCLUST HIERARCHICAL Wehmeier PM, 2010, J ADOLESCENT HEALTH, V46, P209, DOI 10.1016/j.jadohealth.2009.09.009 Williams PG, 1998, J AUTISM DEV DISORD, V28, P567, DOI 10.1023/A:1026012414193 Wolraich ML, 2003, J PEDIATR PSYCHOL, V28, P559, DOI 10.1093/jpepsy/jsg046 NR 30 TC 16 Z9 16 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0012-1622 J9 DEV MED CHILD NEUROL JI Dev. Med. Child Neurol. PD FEB PY 2013 VL 55 IS 2 BP 131 EP 138 DI 10.1111/dmcn.12038 PG 8 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 073FT UT WOS:000313729600011 PM 23163951 ER PT J AU Garg, S Lehtonen, A Huson, SM Emsley, R Trump, D Evans, DG Green, J AF Garg, Shruti Lehtonen, Annukka Huson, Susan M. Emsley, Richard Trump, Dorothy Evans, D. Gareth Green, Jonathan TI Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY LA English DT Article ID DIFFICULTIES QUESTIONNAIRE; INTELLECTUAL DISABILITY; GENERAL-POPULATION; EMOTIONAL-PROBLEMS; CHILDREN; DISORDERS; PREVALENCE; ADOLESCENTS; SAMPLE; NF1 AB Aim To investigate psychopathology in children with neurofibromatosis type 1 (NF1), particularly the prevalence of autism spectrum disorder (ASD) and attention-deficithyperactivity disorder (ADHD) symptomatology, using a population-based sampling approach. Method Standard questionnaire screen reports were analysed for ASD (Social Responsiveness Scale, SRS), ADHD (Conners Parent Rating Scale- Revised, CPRS-R), and other psychiatric morbidity (Strengths and Difficulties Questionnaire, SDQ) from parents and teachers of children aged from 4 to 16 years (112 females, 95 males) on the UK North West Regional Genetic Service register for NF1. Results Parental response rate was 52.7% (109/207 children; 59 females, 50 males, mean age 9y 11mo, SD 3y 3mo). The SRS showed that in 29.4% (32/109) of children, autism was in the severe, clinical range (T-score>75) and in 26.6% (29/109) in the mild to moderate range (T-score 6075). CPRS-R scores showed that in 53.8% (57/106) of children autism was in the clinical ADHD range (ADHD index T-score>65). Based on their scores on the SDQ total difficulties scale, 41.5% (44/106) of children were in the abnormal range and 14.2% (15/106) were in the borderline range. Twenty-five per cent (26/104) of children met criteria for both clinical autism and ADHD. Interpretation This representative population-based sample of children with NF1 indicates a high prevalence of ASD symptoms associated with NF1 as well as substantial co-occurrence with ADHD symptoms. The findings clarify the psychopathology of NF1 and show the disorder as a potentially important single-gene cause for autism symptoms. C1 [Garg, Shruti; Green, Jonathan] Univ Manchester, Inst Brain Behav & Mental Hlth, Manchester M13 9PL, Lancs, England. [Lehtonen, Annukka; Huson, Susan M.; Trump, Dorothy; Evans, D. Gareth] Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England. [Emsley, Richard] Univ Manchester, Inst Populat Hlth, Ctr Biostat, Manchester M13 9PL, Lancs, England. [Green, Jonathan] Manchester Childrens Hosp, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England. RP Green, J (reprint author), Univ Manchester, Inst Brain Behav & Mental Hlth, Room 4-308,Jean McFarlane Bldg,Oxford Rd, Manchester M13 9PL, Lancs, England. EM jonathan.green@manchester.ac.uk FU Manchester Biomedical Research Centre through a Clinical Research Fellowship FX The authors thank Steve Roberts for early advice on study design, Marco Heise for database support, and Karen Tricker for administrative support. The study was funded by the Manchester Biomedical Research Centre through a Clinical Research Fellowship to SG and grant funding to AL. 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TI Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY LA English DT Article ID TUBEROUS SCLEROSIS COMPLEX; PERVASIVE DEVELOPMENTAL DISORDERS; INFANTILE SPASMS; DOWN-SYNDROME; FRAGILE-X; CHILDREN; SPECTRUM; INDIVIDUALS; DEFINITION; MUTATIONS AB Aim As relationships between autistic traits, epilepsy, and cognitive functioning remain poorly understood, these associations were explored in the biologically related disorders tuberous sclerosis complex (TSC), neurofibromatosis type 1 (NF1), and epilepsy. Method The Social Responsiveness Scale (SRS), a quantitative measure of autistic traits, was distributed to caregivers or companions of patients with TSC, NF1, and childhood-onset epilepsy of unknown cause (EUC), and these results were compared with SRS data from individuals with idiopathic autism spectrum disorders (ASDs) and their unaffected siblings. Scores and trait profiles of autistic features were compared with cognitive outcomes, epilepsy variables, and genotype. Results A total of 180 SRS questionnaires were completed in the TSC, NF1, and EUC outpatient clinics at the Massachusetts General Hospital (90 females, 90 males; mean age 21y, range 463y), and SRS data from 210 patients with ASD recruited from an autism research collaboration (167 males, 43 females; mean age 9y, range 422y) and 130 unaffected siblings were available. Regression models showed a significant association between SRS scores and intelligence outcomes (p<0.001) and various seizure variables (p<0.02), but not with a specific underlying disorder or genotype. The level of autistic features was strongly associated with intelligence outcomes in patients with TSC and epilepsy (p<0.01); in patients with NF1 these relationships were weaker (p=0.25). For all study groups, autistic trait subdomains covaried with neurocognitive comorbidity, with endophenotypes similar to that of idiopathic autism. Interpretation Our data show that in TSC and childhood-onset epilepsy, the severity and phenotype of autistic features are inextricably linked with intelligence and epilepsy outcomes. Such relationships were weaker for individuals with NF1. Findings suggest that ASDs are not specific in these conditions. C1 [Van Eeghen, Agnies M.; Van Eeghen, Elmer E.; Thiele, Elizabeth A.] Massachusetts Gen Hosp, Dept Neurol, Carol & James Herscot Ctr Tuberous Sclerosis Comp, Boston, MA 02114 USA. [Van Eeghen, Agnies M.] Erasmus MC, Expertise Ctr Neurodev Disorders, ENCORE, Dept Neurosci, Rotterdam, Netherlands. [Pulsifer, Margaret B.] Massachusetts Gen Hosp, Dept Psychiat, Psychol Assessment Ctr, Boston, MA 02114 USA. [Merker, Vanessa L.; Leigh, Fawn A.; Plotkin, Scott R.] Massachusetts Gen Hosp, Ctr Canc, Boston, MA USA. [Neumeyer, Ann M.] Massachusetts Gen Hosp, Dept Neurol, Lurie Ctr Autism, Boston, MA 02114 USA. [Thibert, Ronald L.] Massachusetts Gen Hosp, Dept Neurol, Pediat Epilepsy Serv, Boston, MA 02114 USA. [Cole, Andrew J.] Massachusetts Gen Hosp, Dept Neurol, Epilepsy Serv, Boston, MA 02114 USA. RP Thiele, EA (reprint author), Carol & James Herscot Ctr Tuberous Sclerosis, 175 Cambridge St,Suite 340, Boston, MA 02114 USA. EM ethiele@partners.org FU Herscot Center for Tuberous Sclerosis Complex; NIH/NINDS [P01 NS024279] FX We are grateful to the families and individuals who agreed to participate in this study and the Autism Consortium for their valuable time and effort. We are grateful to the Autism Consortium for access to the data analyzed here, and for the support from Christine Ferrone and Roksana Sasanfar for assisting with the Autism Consortium data collection. We thank Zaida Ortega, Christina Anagnos, Jill Beamon, and Joseph Nimon for assisting with distribution and scoring of the questionnaires. Lastly, we are grateful to the MGH Department of Biostatistics for assistance with statistical analysis. This study was sponsored by the Herscot Center for Tuberous Sclerosis Complex, and NIH/NINDS P01 NS024279. 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Med. Child Neurol. PD FEB PY 2013 VL 55 IS 2 BP 146 EP 153 DI 10.1111/dmcn.12044 PG 8 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 073FT UT WOS:000313729600013 PM 23205844 ER PT J AU Sharma, JR Arieff, Z Gameeldien, H Davids, M Kaur, M van der Merwe, L AF Sharma, Jyoti Rajan Arieff, Zainunisha Gameeldien, Hajirah Davids, Muneera Kaur, Mandeep van der Merwe, Lize TI Association Analysis of Two Single-Nucleotide Polymorphisms of the RELN Gene with Autism in the South African Population SO GENETIC TESTING AND MOLECULAR BIOMARKERS LA English DT Article ID CHINESE HAN POPULATION; REELIN GENE; SPECTRUM DISORDER; NEUROANATOMICAL ABNORMALITIES; BRAIN-DEVELOPMENT; BIPOLAR DISORDER; CEREBRAL-CORTEX; SCHIZOPHRENIA; EXPRESSION; SUSCEPTIBILITY AB Background: Autism (MIM209850) is a neurodevelopmental disorder characterized by a triad of impairments, namely impairment in social interaction, impaired communication skills, and restrictive and repetitive behavior. A number of family and twin studies have demonstrated that genetic factors play a pivotal role in the etiology of autistic disorder. Various reports of reduced levels of reelin protein in the brain and plasma in autistic patients highlighted the role of the reelin gene (RELN) in autism. There is no such published study on the South African (SA) population. Aims: The aim of the present study was to find the genetic association of intronic rs736707 and exonic rs362691 (single-nucleotide polymorphisms [SNPs] of the RELN gene) with autism in a SA population. Methods: Genomic DNA was isolated from cheek cell swabs from autistic (136) as well as control (208) subjects. The TaqMan (R) Real-Time polymerase chain reaction and genotyping assay was utilized to determine the genotypes. Results: A significant association of SNP rs736707, but not for SNP rs362691, with autism in the SA population is observed. Conclusion: There might be a possible role of RELN in autism, especially for SA populations. The present study represents the first report on genetic association studies on the RELN gene in the SA population. C1 [Sharma, Jyoti Rajan; Arieff, Zainunisha; Gameeldien, Hajirah; Davids, Muneera; Kaur, Mandeep] Univ Western Cape, Fac Nat Sci, Dept Biotechnol, ZA-7535 Bellville, South Africa. [Kaur, Mandeep] King Abdullah Univ Sci & Technol, Computat Biosci Res Ctr, Thuwal, Saudi Arabia. [van der Merwe, Lize] MRC, Biostat Unit, Tygerberg, South Africa. [van der Merwe, Lize] Univ Western Cape, Dept Stat, Cape Town, South Africa. RP Arieff, Z (reprint author), Univ Western Cape, Fac Nat Sci, Dept Biotechnol, Private Bag X17, ZA-7535 Bellville, South Africa. EM zarieff@uwc.ac.za FU National Research Foundation, South Africa [TTK2008050600011]; Autism South Africa; University of the Western Cape FX We would like to thank the National Research Foundation, South Africa (Thuthuka grant TTK2008050600011), Autism South Africa, and the University of the Western Cape, for funds provided for this study. We also want to thank the children, their parents, the school staff, and volunteers of the Western Cape Education department for their support and involvement during sample collection. 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Test. Mol. Biomark. PD FEB PY 2013 VL 17 IS 2 BP 93 EP 98 DI 10.1089/gtmb.2012.0212 PG 6 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 074HK UT WOS:000313803300003 PM 23216241 ER PT J AU Rios, JJ Paria, N Burns, DK Israel, BA Cornelia, R Wise, CA Ezaki, M AF Rios, Jonathan J. Paria, Nandina Burns, Dennis K. Israel, Bonnie A. Cornelia, Reuel Wise, Carol A. Ezaki, Marybeth TI Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly SO HUMAN MOLECULAR GENETICS LA English DT Article ID DE-NOVO MUTATIONS; AUTISM SPECTRUM DISORDERS; CANCER-SPECIFIC MUTATIONS; PROTEIN-KINASE-B; IN-VIVO; ACTIVATING MUTATIONS; DISEASE; GENE; P110-ALPHA/P85-ALPHA; SCHIZOPHRENIA AB Macrodactyly is a discrete congenital anomaly consisting of enlargement of all tissues localized to the terminal portions of a limb, typically within a onerve territory'. The classic terminology for this condition is olipofibromatous hamartoma of nerve' or Type I macrodactyly. The peripheral nerve, itself, is enlarged both in circumference and in length. It is not related to neurofibromatosis (NF1), nor is it associated with vascular malformations, such as in the recently reported CLOVES syndrome. The specific nerve pathophysiology in this form of macrodactyly has not been well described and a genetic etiology for this specific form of enlargement is unknown. To identify the genetic cause of macrodactyly, we used whole-exome sequencing to identify somatic mutations present in the affected nerve of a single patient. We confirmed a novel mutation in PIK3CA (R115P) present in the patients affected nerve tissue but not in blood DNA. Sequencing PIK3CA exons identified gain-of-function mutations (E542K, H1047L or H1047R) in the affected tissue of five additional unrelated patients; mutations were absent in blood DNA available from three patients. Immunocytochemistry confirmed AKT activation in cultured cells from the nerve of a macrodactyly patient. Additionally, we found that the most abnormal structure within the involved nerve in a macrodactylous digit is the perineurium, with additional secondary effects on the axon number and size. Thus, isolated congenital macrodactyly is caused by somatic activation of the PI3K/AKT cell-signaling pathway and is genetically and biochemically related to other overgrowth syndromes. C1 [Rios, Jonathan J.; Paria, Nandina; Israel, Bonnie A.; Cornelia, Reuel; Wise, Carol A.] Texas Scottish Rite Hosp Children, Sarah M & Charles E Seay Ctr Musculoskeletal Res, Dallas, TX 75219 USA. [Ezaki, Marybeth] Texas Scottish Rite Hosp Children, Charles E Seay Jr Hand Ctr, Dallas, TX 75219 USA. [Rios, Jonathan J.] Univ Texas SW Med Ctr Dallas, Dept Pediat, Dallas, TX 75390 USA. [Rios, Jonathan J.; Wise, Carol A.] Univ Texas SW Med Ctr Dallas, Eugene McDermott Ctr Human Growth & Dev, Dallas, TX 75390 USA. [Burns, Dennis K.] Univ Texas SW Med Ctr Dallas, Dept Pathol, Dallas, TX 75390 USA. [Wise, Carol A.; Ezaki, Marybeth] Univ Texas SW Med Ctr Dallas, Dept Orthopaed Surg, Dallas, TX 75390 USA. RP Rios, JJ (reprint author), Texas Scottish Rite Hosp Children, Sarah M & Charles E Seay Ctr Musculoskeletal Res, 2222 Welborn St, Dallas, TX 75219 USA. EM jonathan.rios@tsrh.org FU Texas Scottish Rite Hospital for Children FX This study was supported by Texas Scottish Rite Hospital for Children. Funding to pay the Open Access publication charges for this article was provided by Texas Scottish Rite Hospital for Children. 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To circumvent this issue, we have developed a method using human-induced pluripotent stem cells to generate cardiomyocytes from individuals with Timothy syndrome (TS), a genetic disorder characterized by QT prolongation, ventricular tachycardia, and autism. The TS ventricular-like cardiomyocytes exhibit deficits in contraction, electrical signaling, and calcium handling, as revealed by live cell imaging and electrophysiological studies. We tested candidate drugs in TS cardiomyocytes and found that roscovitine could successfully rescue these cellular phenotypes. The use of a human cellular model of cardiac arrhythmias provides a useful new platform not only to study disease mechanisms but also to develop new therapies to treat cardiac arrhythmias. C1 [Yazawa, Masayuki; Dolmetsch, Ricardo E.] Stanford Univ, Sch Med, Dept Neurobiol, Stanford, CA 94305 USA. RP Dolmetsch, RE (reprint author), Stanford Univ, Sch Med, Dept Neurobiol, Stanford, CA 94305 USA. 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Cardiovasc. Transl. Res. PD FEB PY 2013 VL 6 IS 1 SI SI BP 1 EP 9 DI 10.1007/s12265-012-9444-x PG 9 WC Cardiac & Cardiovascular Systems; Medicine, Research & Experimental SC Cardiovascular System & Cardiology; Research & Experimental Medicine GA 072GM UT WOS:000313657700001 PM 23299782 ER PT J AU Leavey, A Zwaigenbaum, L Heavner, K Burstyn, I AF Leavey, Anna Zwaigenbaum, Lonnie Heavner, Karyn Burstyn, Igor TI Gestational Age at Birth and Risk of Autism Spectrum Disorders in Alberta, Canada SO JOURNAL OF PEDIATRICS LA English DT Article ID PRETERM BIRTH; NEONATAL FACTORS; OBSTETRIC COMPLICATIONS; EXTREME PREMATURITY; PERINATAL FACTORS; INFANTILE-AUTISM; CHILDREN; POPULATION; PREVALENCE; WEIGHT AB Objective To examine the association between autism spectrum disorders (ASD) and each completed week of gestation using a graphical method of presenting results at all possible categorizations of gestational age (GA). Study design The risk of ASD in a total of 218 110 singleton live births with complete data from Alberta, Canada between 1998 and 2004 was examined through linkage to health insurance records. The relative risk of developing ASD according to the 21 dichotomizations of shorter gestation (GA <= 23 weeks vs >23 weeks to <= 43 weeks vs >43 weeks, in 1-week increments) was calculated using log-binomial regression and adjusted for fetal sex, socioeconomic status, and birth year. Results We observed a gradual increased risk of ASD with shorter gestation. Cutoffs only between 29 and 40 weeks clearly denoted an elevated risk of developing ASD compared with longer gestation, and the risk increased with earlier GA cutoff. The results were not affected by sex or measures of fetal growth. Conclusion Our data confirm the role of shortened gestation in ASD risk. We warn against the use of prespecified or a data-driven GA cutoff, however; instead, we recommend systematically examining all plausible cutoffs for GA to avoid overstating the homogeneity of risk in children on either side of a given cutoff, as well as to increase the comparability of studies. (J Pediatr 2013;162:361-8). C1 [Leavey, Anna] Washington Univ, Dept Energy Environm & Chem Engn, Aerosol & Air Qual Res Lab, St Louis, MO USA. [Leavey, Anna; Heavner, Karyn; Burstyn, Igor] Drexel Univ, Sch Publ Hlth, Dept Environm & Occupat Hlth, Philadelphia, PA 19102 USA. [Zwaigenbaum, Lonnie] Univ Alberta, Dept Pediat, Fac Med & Dent, Edmonton, AB, Canada. RP Burstyn, I (reprint author), Drexel Univ, Sch Publ Hlth, Dept Environm & Occupat Hlth, 1505 Race St,Room 1332, Philadelphia, PA 19102 USA. EM Igor.Burstyn@drexel.edu FU Alberta Heritage Foundation for Medical Research FX I.B. and L.Z. are supported by a Population Health Investigator award and a Health Scholar award, respectively, from the Alberta Heritage Foundation for Medical Research. This study is based on data supplied by Alberta Health and Wellness (AHW) and the Alberta Perinatal Health Program (APHP). The interpretation and conclusions contained herein are those of the researchers and do not necessarily represent the views of the Government of Alberta, AHW, or the APHP. The authors declare no conflicts of interest. 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DEL RIO, 4-1 B, 33001 OVIEDO, SPAIN SN 0214-9915 J9 PSICOTHEMA JI Psicothema PD FEB PY 2013 VL 25 IS 1 BP 31 EP 37 DI 10.7334/psicothema2011.192 PG 7 WC Psychology, Multidisciplinary SC Psychology GA 072JD UT WOS:000313666300006 ER PT J AU Jones, RR Blades, M Coleman, M Pascalis, O AF Jones, Rebecca R. Blades, Mark Coleman, Mike Pascalis, Olivier TI Learning new faces in typical and atypical populations of children SO SCANDINAVIAN JOURNAL OF PSYCHOLOGY LA English DT Article DE Autistic spectrum disorder (ASD); Face; learning ID AUTISM SPECTRUM DISORDER; AUTOBIOGRAPHICAL MEMORY; PERCEPTION; DISCRIMINATION; RECOGNITION; FAMILIAR; ADULTS AB Jones, R. R., Blades, M., Coleman, M. & Pascalis O. (2013). Learning new faces in typical and atypical populations of children. Scandinavian Journal of Psychology 54, 1013. Recognizing an individual as familiar is an important aspect of our social cognition, which requires both learning a face and recalling it. It has been suggested that children with autistic spectrum disorder (ASD) have deficits and abnormalities in face processing. We investigated whether the process by which unfamiliar faces become familiar differs in typically developing (TD) children, children with ASD, and children with developmental delay. Children were familiarized with a set of moving novel faces presented over a three-day period. Recognition of the learned faces was assessed at five time points during the three-day period. Both immediate and delayed recall of faces was tested. All groups showed improvements in face recognition at immediate recall, which indicated that learning had occurred. The TD population showed slightly better performance than the two other groups, however no difference was specific to the ASD group. All groups showed similar levels of improvements with time. Our results are discussed in terms of learning in ASD. C1 [Jones, Rebecca R.; Blades, Mark] Univ Sheffield, Dept Psychol, Sheffield S10 2TN, S Yorkshire, England. [Coleman, Mike] UCL, London, England. [Pascalis, Olivier] CNRS, BSHM, F-38000 Grenoble, France. RP Pascalis, O (reprint author), CNRS, BSHM, F-38000 Grenoble, France. EM olivier.pascalis@upmf-grenoble.fr CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Bonner L, 2003, VIS COGN, V10, P527, DOI 10.1080/13506280244000168 Bosseler A, 2003, J AUTISM DEV DISORD, V33, P653, DOI 10.1023/B:JADD.0000006002.82367.4f Boucher J, 1998, J CHILD PSYCHOL PSYC, V39, P171, DOI 10.1017/S0021963097001820 Bruck M, 2007, DEV PSYCHOPATHOL, V19, P73, DOI 10.1017/S0954579407070058 Cowan N., 1997, DEV MEMORY CHILDHOOD Crane L, 2008, J AUTISM DEV DISORD, V38, P498, DOI 10.1007/s10803-007-0420-2 Frith U., 2003, AUTISM EXPLAINING EN Gernsbacher M. 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PD FEB PY 2013 VL 54 IS 1 SI SI BP 10 EP 13 DI 10.1111/sjop.12006 PG 4 WC Psychology, Multidisciplinary SC Psychology GA 073DV UT WOS:000313724600003 PM 23320881 ER PT J AU Strid, K Heimann, M Tjus, T AF Strid, Karin Heimann, Mikael Tjus, Tomas TI Pretend play, deferred imitation and parent-child interaction in speaking and non-speaking children with autism SO SCANDINAVIAN JOURNAL OF PSYCHOLOGY LA English DT Article DE Autism; pretend play; deferred imitation; parent interaction; recall memory; language level ID JOINT ATTENTION; DIAGNOSTIC INTERVIEW; 24-MONTH-OLD INFANTS; SPECTRUM DISORDER; SYMBOLIC PLAY; COMMUNICATION; LANGUAGE; PREDICTORS; IMMEDIATE; MEMORY AB Strid, K., Heimann, M. & Tjus T. (2013). Pretend play, deferred imitation and parent-child interaction in speaking and non-speaking children with autism. Scandinavian Journal of Psychology 54, 2632. This study investigates spontaneous pretend play during a parent-child free play observation, and deferred imitation observed in an experimental setting in speaking and non-speaking children with autism in comparison to children with typical development. Both groups of children with autism showed a reduced level of deferred imitation compared to the typically developing group, but only the non-speaking children with autism spent significantly less time in pretend play compared to children with typical development. Deferred imitation was related to parents verbal interaction in both groups. An analysis of the parent-child interaction revealed that parents of children with autism used less synchronized comments compared to parents of typically developing children. Parents of the speaking group with autism used more synchronized than unsynchronized comments, while parents of the non-speaking group used the same amount of synchronized and unsynchronized comments. These findings are discussed in terms of how the developmental level affects behavior and interaction in autism. C1 [Strid, Karin] Univ Gothenburg, Dept Psychol, SE-40530 Gothenburg, Sweden. [Heimann, Mikael] Linkoping Univ, S-58183 Linkoping, Sweden. RP Strid, K (reprint author), Univ Gothenburg, Dept Psychol, Box 500, SE-40530 Gothenburg, Sweden. EM karin.strid@psy.gu.se CR American Psychological Association (APA), 1994, DIAGN STAT MAN Barr R, 1996, INFANT BEHAV DEV, V19, P159, DOI 10.1016/S0163-6383(96)90015-6 Berglund E, 2000, SCAND J PSYCHOL, V41, P133, DOI 10.1111/1467-9450.00181 Billstedt E., 2007, THESIS GOTHENBURG U Bloom L, 2001, MONOGRAPHS SOC RES C, V66, p[i, 1], DOI DOI 10.1111/1540-5834.00163 Charman T, 1997, J AUTISM DEV DISORD, V27, P325, DOI 10.1023/A:1025806616149 Dawson G, 1998, CHILD DEV, V69, P1276, DOI 10.2307/1132265 Dunn L. 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L., 1989, CHILDREN EMOTION Hedenbro M, 2007, CHILD LANG TEACH THE, V23, P201, DOI 10.1177/0265659007076294 Heimann M., FOCUS AUTIS IN PRESS Heimann M, 2006, INFANT CHILD DEV, V15, P233, DOI 10.1002/icd.462 Jarrold C, 2003, AUTISM, V7, P379, DOI 10.1177/1362361303007004004 Joseph RM, 2002, J CHILD PSYCHOL PSYC, V43, P807, DOI 10.1111/1469-7610.00092 KASARI C, 1988, J ABNORM CHILD PSYCH, V16, P45, DOI 10.1007/BF00910499 Kaufman AS, 1983, KAUFMAN ASSESSMENT B KONSTANTAREAS MM, 1988, J AUTISM DEV DISORD, V18, P647, DOI 10.1007/BF02211882 LESLIE AM, 1987, PSYCHOL REV, V94, P412, DOI 10.1037/0033-295X.94.4.412 Libby S, 1998, J AUTISM DEV DISORD, V28, P487, DOI 10.1023/A:1026095910558 LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 McCarthy D., 1972, MCCARTHY SCALES CHIL McEwen F, 2007, CHILD DEV, V78, P474, DOI 10.1111/j.1467-8624.2007.01010.x Meltzoff A. 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PD FEB PY 2013 VL 54 IS 1 SI SI BP 26 EP 32 DI 10.1111/sjop.12003 PG 7 WC Psychology, Multidisciplinary SC Psychology GA 073DV UT WOS:000313724600006 PM 23121545 ER PT J AU Mekinian, A Lachassinne, E Nicaise-Roland, P Carbillon, L Motta, M Vicaut, E Boinot, C Avcin, T Letoumelin, P De Carolis, S Rovere-Querini, P Lambert, M Derenne, S Pourrat, O Stirnemann, J Chollet-Martin, S Biasini-Rebaioli, C Rovelli, R Lojacono, A Ambrozic, A Botta, A Benbara, A Pierre, F Allegri, F Nuzzo, M Hatron, PY Tincani, A Fain, O Aurousseau, MH Boffa, MC AF Mekinian, Arsene Lachassinne, Eric Nicaise-Roland, Pascale Carbillon, Lionel Motta, Mario Vicaut, Eric Boinot, Catherine Avcin, Tadej Letoumelin, Philippe De Carolis, Sara Rovere-Querini, Patrizia Lambert, Marc Derenne, Sophie Pourrat, Olivier Stirnemann, Jerome Chollet-Martin, Sylvie Biasini-Rebaioli, Chiara Rovelli, Rosanna Lojacono, Andrea Ambrozic, Ales Botta, Angela Benbara, Amelie Pierre, Fabrice Allegri, Flavio Nuzzo, Monica Hatron, Pierre-Yves Tincani, Angela Fain, Olivier Aurousseau, Marie-Helene Boffa, Marie-Claire TI European registry of babies born to mothers with antiphospholipid syndrome SO ANNALS OF THE RHEUMATIC DISEASES LA English DT Article ID INTERNATIONAL CONSENSUS STATEMENT; CHILDREN BORN; NEUROPSYCHOLOGICAL DEVELOPMENT; CLASSIFICATION CRITERIA; AUTOIMMUNE-DISEASE; HEALTHY-CHILDREN; INFANTS BORN; I ANTIBODIES; ANTICARDIOLIPIN; PREGNANCY AB Objectives This study aimed to describe the long-term outcome and immunological status of children born to mothers with antiphospholipid syndrome, to determine the factors responsible for childhood abnormalities, and to correlate the child's immunological profile with their mothers. Methods A prospective follow-up of a European multicentre cohort was conducted. The follow-up consisted of clinical examination, growth data, neurodevelopmental milestones and antiphospholipid antibodies (APL) screening. Children were examined at 3, 9, 24 months and 5 years. Results 134 children were analysed (female sex in 65 cases, birth weight 3000 +/- 500 g, height 48 +/- 3 cm). Sixteen per cent had a preterm birth (< 37 weeks; n=22), and 14% weighted less than 2500 g at birth (n=19). Neonatal complications were noted in 18 cases (13%), with five infections (4%). During the 5-year follow-up, no thrombosis or systemic lupus erythematosus (SLE) was noted. Four children displayed behavioural abnormalities, which consisted of autism, hyperactive behaviour, feeding disorder with language delay and axial hypotony with psychomotor delay. At birth lupus anticoagulant was present in four (4%), anticardiolipin antibodies (ACL) IgG in 18 (16%), anti-beta(2) glycoprotein-I (anti-beta 2GPI) IgG/M in 16 (15%) and three (3%), respectively. ACL IgG and anti-beta 2GPI disappeared at 6 months in nine (17%) and nine (18%), whereas APL persisted in 10% of children. ACL and anti-beta 2GPI IgG were correlated with the same mother's antibodies before 6 months of age (p < 0.05). Conclusion Despite the presence of APL in children, thrombosis or SLE were not observed. The presence of neurodevelopmental abnormalities seems to be more important in these children, and could justify long-term follow-up. C1 [Mekinian, Arsene; Stirnemann, Jerome; Fain, Olivier] Univ Paris 13, Serv Med Interne, F-93140 Bondy, France. [Lachassinne, Eric] Univ Paris 13, Serv Neonatol & Pediat, F-93140 Bondy, France. [Nicaise-Roland, Pascale; Chollet-Martin, Sylvie] Hop Bichat Claude Bernard, AP HP, Unite Fonct Immunol Autoimmunite & Hypersensibili, F-75877 Paris 18, France. [Carbillon, Lionel; Benbara, Amelie] Univ Paris 13, Serv Gynecol Obstet, F-93140 Bondy, France. [Motta, Mario; Biasini-Rebaioli, Chiara; Lojacono, Andrea; Allegri, Flavio; Nuzzo, Monica; Tincani, Angela] Univ Brescia, Spedali Civili, Rheumatol Obstet Neonatol & Neonatal Intens Care, Brescia, Italy. [Vicaut, Eric] Univ Paris 07, Hop Lariboisiere, AP Hop Paris, Serv Epidemiol & Biostat, Paris, France. [Boinot, Catherine; Pourrat, Olivier; Pierre, Fabrice] CHU Poitiers, Serv Hematol Biol, Poitiers, France. [Avcin, Tadej; Ambrozic, Ales] Univ Chidrens Hosp Ljubljana, Univ Med Ctr, Ljubljana, Slovenia. [Letoumelin, Philippe] Univ Paris 13, Hop Avicenne, AP Hop Paris, Serv Epidemiol & Biostat, F-93140 Bondy, France. [De Carolis, Sara; Botta, Angela] Univ Cattolica Sacro Cuore, I-00168 Rome, Italy. [Rovere-Querini, Patrizia; Rovelli, Rosanna] San Rafaele Sci Inst, Milan, Italy. [Lambert, Marc; Hatron, Pierre-Yves] Univ Lille 2, Hop Claude Huriez, Serv Med Interne, Lille, France. [Derenne, Sophie] CHU Nantes, Serv Hematol Biol, F-44035 Nantes 01, France. [Aurousseau, Marie-Helene; Boffa, Marie-Claire] Univ Paris 13, Serv Hematol Biol, F-93140 Bondy, France. RP Mekinian, A (reprint author), Univ Paris 13, Hop Jean Verdier, AP HP, Serv Med Interne, F-93140 Bondy, France. EM arsene.mekinian@jvr.aphp.fr RI Tincani, Angela/E-7608-2010 CR Andreoli L, 2011, ANN RHEUM DIS, V70, P380, DOI 10.1136/ard.2010.137281 Avcin T, 2001, RHEUMATOLOGY, V40, P565, DOI 10.1093/rheumatology/40.5.565 Boffa MC, 2007, LUPUS, V16, P634, DOI 10.1177/0961203307079039 Boffa MC, 2004, LUPUS, V13, P713, DOI 10.1191/0961203304lu1089oa Brewster JA, 1999, J PERINAT MED, V27, P183, DOI 10.1515/JPM.1999.025 Caronti B, 1998, J AUTOIMMUN, V11, P425, DOI 10.1006/jaut.1998.0214 Keil A, 2010, EPIDEMIOLOGY, V21, P805, DOI 10.1097/EDE.0b013e3181f26e3f Levy SE, 2009, LANCET, V374, P1627, DOI 10.1016/S0140-6736(09)61376-3 Miyakis S, 2006, J THROMB HAEMOST, V4, P295, DOI 10.1111/j.1538-7836.2006.01753.x Motta M, 2006, AM J PERINAT, V23, P247, DOI 10.1055/s-2006-939533 Nacinovich R, 2008, ARTHRIT RHEUM-ARTHR, V59, P345, DOI 10.1002/art.23311 Neri F, 2004, LUPUS, V13, P805, DOI 10.1191/0961203304lu2018oa Nicaise-Roland P, 2008, THROMB HAEMOSTASIS, V99, P1 Pinto-Martin JA, 2011, PEDIATRICS, V128, P883, DOI 10.1542/peds.2010-2846 Ross G, 2003, ARCH PEDIAT ADOL MED, V157, P397, DOI 10.1001/archpedi.157.4.397 Ruffatti A, 2009, THROMB RES, V123, P482, DOI 10.1016/j.thromres.2008.03.012 Shrot S, 2002, LUPUS, V11, P736, DOI 10.1191/0961203302lu255oa Wilson WA, 1999, ARTHRITIS RHEUM, V42, P1309, DOI 10.1002/1529-0131(199907)42:7<1309::AID-ANR1>3.0.CO;2-F ZURGIL N, 1993, LUPUS, V2, P233, DOI 10.1177/096120339300200405 NR 19 TC 19 Z9 19 PU BMJ PUBLISHING GROUP PI LONDON PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND SN 0003-4967 J9 ANN RHEUM DIS JI Ann. Rheum. Dis. PD FEB PY 2013 VL 72 IS 2 BP 217 EP 222 DI 10.1136/annrheumdis-2011-201167 PG 6 WC Rheumatology SC Rheumatology GA 067BA UT WOS:000313265800009 PM 22589374 ER PT J AU Novogrodsky, R AF Novogrodsky, Rama TI Subject pronoun use by children with autism spectrum disorders (ASD) SO CLINICAL LINGUISTICS & PHONETICS LA English DT Article DE autism; pronouns; narrative; production ID LANGUAGE; ACQUISITION; DISCOURSE; DEFICITS; SYNTAX AB In the current study, storytelling and story retelling by children with autism spectrum disorder (ASD) were analyzed to explore ambiguous third-person pronoun use in narratives. Twenty-three children diagnosed with ASD aged 6;1 to 14;3 and 17 typically-developing (TD) children aged 5;11 to 14;4 participated in the study. In the retelling task, no significant difference between the groups was found, suggesting that in less challenging tasks, children with ASD produce third-person subject pronouns appropriately. In the storytelling task, children with ASD produced more ambiguous third-person subject pronouns than did the TD children. The findings suggest a model in which children with ASD show deficits in the pragmatic domain of producing narratives. C1 Boston Univ, Programs Deaf Studies, Ctr Study Commun & Deaf, Boston, MA 02215 USA. RP Novogrodsky, R (reprint author), Boston Univ, Programs Deaf Studies, Ctr Study Commun & Deaf, 621 Commonwealth Ave, Boston, MA 02215 USA. EM ramanovo@gmail.com FU NIDCD [U19 DC 03610] FX The author thanks Barbara Pearson, Einat Shetreet, Kathleen Corriveau and Lisa Edelson for their comments on an earlier version of the manuscript and the students who transcribed and coded the language samples. The author thanks Helen Tager-Flusberg for her support and for sharing this valuable data set. This study was supported by the grant number U19 DC 03610 from the NIDCD. 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W., 2001, WOODCOCK JOHNSON 3 NR 36 TC 3 Z9 3 PU INFORMA HEALTHCARE PI LONDON PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND SN 0269-9206 J9 CLIN LINGUIST PHONET JI Clin. Linguist. Phon. PD FEB PY 2013 VL 27 IS 2 BP 85 EP 93 DI 10.3109/02699206.2012.742567 PG 9 WC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation SC Audiology & Speech-Language Pathology; Linguistics; Rehabilitation GA 067JC UT WOS:000313289100001 PM 23294224 ER PT J AU Qiao, Y Tyson, C Hrynchak, M Lopez-Rangel, E Hildebrand, J Martell, S Fawcett, C Kasmara, L Calli, K Harvard, C Liu, X Holden, JJA Lewis, SME Rajcan-Separovic, E AF Qiao, Y. Tyson, C. Hrynchak, M. Lopez-Rangel, E. Hildebrand, J. Martell, S. Fawcett, C. Kasmara, L. Calli, K. Harvard, C. Liu, X. Holden, J. J. A. Lewis, S. M. E. Rajcan-Separovic, E. TI Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability SO CLINICAL GENETICS LA English DT Article DE ASDs; CNVs; ID; QMPSF; whole-genome arrays ID COPY NUMBER VARIATION; MENTAL-RETARDATION; CONGENITAL-ANOMALIES; SNP ARRAY; DMD GENE; INDIVIDUALS; DISORDERS; VARIANTS; SPECTRUM AB Qiao Y, Tyson C, Hrynchak M, Lopez-Rangel E, Hildebrand J, Martell S, Fawcett C, Kasmara L, Calli K, Harvard C, Liu X, Holden JJA, Lewis SME, Rajcan-Separovic E. Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability. Higher resolution whole-genome arrays facilitate the identification of smaller copy number variations (CNVs) and their integral genes contributing to autism and/or intellectual disability (ASD/ID). Our study describes the use of one of the highest resolution arrays, the Affymetrix (R) Cytogenetics 2.7M array, coupled with quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments (QMPSF) for detection and validation of small CNVs. We studied 82 subjects with ASD and ID in total (30 in the validation and 52 in the application cohort) and detected putatively pathogenic CNVs in 6/52 cases from the application cohort. This included a 130-kb maternal duplication spanning exons 6479 of the DMD gene which was found in a 3-year-old boy manifesting autism and mild neuromotor delays. Other pathogenic CNVs involved 4p14, 12q24.31, 14q32.31, 15q13.2-13.3, and 17p13.3. We established the optimal experimental conditions which, when applied to select small CNVs for QMPSF confirmation, reduced the false positive rate from 60% to 25%. Our work suggests that selection of small CNVs based on the function of integral genes, followed by review of array experimental parameters resulting in highest confirmation rate using multiplex PCR, may enhance the usefulness of higher resolution platforms for ASD and ID gene discovery. C1 [Qiao, Y.; Martell, S.; Kasmara, L.; Calli, K.; Harvard, C.; Lewis, S. M. E.; Rajcan-Separovic, E.] BC Child & Family Res Inst, Vancouver, BC, Canada. [Qiao, Y.; Martell, S.; Harvard, C.; Rajcan-Separovic, E.] Univ British Columbia, Dept Pathol Cytogenet, Vancouver, BC V5Z 4H4, Canada. [Qiao, Y.; Lopez-Rangel, E.; Hildebrand, J.; Kasmara, L.; Calli, K.; Lewis, S. M. E.] Univ British Columbia, Dept Med Genet, Vancouver, BC V5Z 4H4, Canada. [Qiao, Y.; Tyson, C.; Hrynchak, M.; Hildebrand, J.; Kasmara, L.; Calli, K.; Liu, X.; Holden, J. J. A.; Lewis, S. M. E.; Rajcan-Separovic, E.] Univ British Columbia, Autism Spectrum Interdisciplinary Res ASPIRE Prog, Vancouver, BC V5Z 4H4, Canada. [Tyson, C.; Hrynchak, M.; Fawcett, C.] Royal Columbian Hosp, Cytogenet Lab, New Westminster, BC, Canada. [Liu, X.; Holden, J. J. A.] Queens Univ, Dept Psychiat, Kingston, ON K7L 3N6, Canada. [Holden, J. J. A.] Queens Univ, Dept Physiol, Kingston, ON K7L 3N6, Canada. RP Rajcan-Separovic, E (reprint author), Univ British Columbia, Dept Pathol, Child & Family Res Inst, 950 W 28th,Room 3060, Vancouver, BC V5Z 4H4, Canada. EM eseparovic@cw.bc.ca; sume@mail.ubc.ca; eseparovic@cw.bc.ca FU Canadian Institutes for Health Research (CIHR) [RT-64217, MOP 74502]; Autism Speaks; CIHR Interdisciplinary Health Research Team grant [RT-43820]; Ontario Mental Health Foundation FX This work was supported by funding from the Canadian Institutes for Health Research (CIHR) (RT-64217; PI: S. M. E. L. and MOP 74502; PI: E. R. S.), Autism Speaks (PI: S. M. E. L.), a CIHR Interdisciplinary Health Research Team grant (RT-43820) to ASD-CARC (PI: J. J. A. H.) (http://www.AutismResearch.com), and the Ontario Mental Health Foundation (PI: J. J. A. H.). S. M. E. L. and E. R-S. are Career Investigators with the Michael Smith Foundation for Health Research. The authors wish to thank Dr Tanya Nelson for useful discussions related to DMD gene. CR Bernardini L, 2010, EUR J HUM GENET, V18, P178, DOI 10.1038/ejhg.2009.154 Friedman JM, 2009, BMC GENOMICS, V10, DOI 10.1186/1471-2164-10-526 LORD C, 1994, J AUTISM DEV DISORD, V24, P659, DOI 10.1007/BF02172145 Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947 Miller DT, 2010, AM J HUM GENET, V86, P749, DOI 10.1016/j.ajhg.2010.04.006 Pinto D, 2010, NATURE, V466, P368, DOI 10.1038/nature09146 Rajcan-Separovic E, 2010, HUM REPROD, V25, P2913, DOI 10.1093/humrep/deq202 Rauch A, 2004, J MED GENET, V41, P916, DOI 10.1136/jmg.2004.022855 Sagoo GS, 2009, GENET MED, V11, P139, DOI 10.1097/GIM.0b013e318194ee8f Sharp AJ, 2008, NAT GENET, V40, P322, DOI 10.1038/ng.93 White SJ, 2006, CYTOGENET GENOME RES, V115, P240, DOI 10.1159/000095920 White SJ, 2006, HUM MUTAT, V27, P938, DOI 10.1002/humu.20367 NR 12 TC 11 Z9 11 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0009-9163 J9 CLIN GENET JI Clin. Genet. PD FEB PY 2013 VL 83 IS 2 BP 145 EP 154 DI 10.1111/j.1399-0004.2012.01860.x PG 10 WC Genetics & Heredity SC Genetics & Heredity GA 065AZ UT WOS:000313120400006 PM 22369279 ER PT J AU Dixit, A Mckee, S Mansour, S Mehta, SG Tanteles, GA Anastasiadou, V Patsalis, PC Martin, K McCullough, S Suri, M Sarkar, A AF Dixit, A. McKee, S. Mansour, S. Mehta, S. G. Tanteles, G. A. Anastasiadou, V. Patsalis, P. C. Martin, K. McCullough, S. Suri, M. Sarkar, A. TI 7q11.23 Microduplication: a recognizable phenotype SO CLINICAL GENETICS LA English DT Article DE autism spectrum disorder; 7q11; 23 microduplication; speech delay; Williams-Beuren critical region ID EXPRESSIVE-LANGUAGE DELAY; WILLIAMS-BEUREN REGION; MENTAL-RETARDATION; INCLUDING DUPLICATIONS; DYSMORPHIC FEATURES; AUTISM; TRIPLICATION; SPECTRUM; PATIENT; SPEECH AB Dixit A, McKee S, Mansour S, Mehta SG, Tanteles GA, Anastasiadou V, Patsalis PC, Martin K, McCullough S, Suri M, Sarkar A. 7q11.23 Microduplication: a recognizable phenotype. Williams-Beuren syndrome is a well-known microdeletion syndrome with a recognizable clinical phenotype. The subtle phenotype of the reciprocal microduplication of the Williams-Beuren critical region has been described recently. We report seven further patients, and a transmitting parent, with 7q11.23 microduplication. All our patients had speech delay, autistic features and facial dysmorphism consistent with the published literature. We conclude that the presence of specific dysmorphic features, including straight, neat eyebrows, thin lips and a short philtrum, in our patients with speech delay and autistic features provides further evidence that the children with 7q11.23 microduplication have a recognizable phenotype. C1 [Dixit, A.; Suri, M.; Sarkar, A.] City Hosp Nottingham, Dept Clin Genet, Nottingham NG5 1PB, England. [McKee, S.] Belfast City Hosp, No Ireland Reg Genet Serv, Belfast BT9 7AD, Antrim, North Ireland. [Mansour, S.] Univ London, SW Thames Reg Genet Serv, London, England. [Mehta, S. G.] Addenbrookes Hosp, E Anglian Med Genet Serv, Cambridge, England. [Tanteles, G. A.; Anastasiadou, V.; Patsalis, P. C.] Cyprus Inst Neurol & Genet, Nicosia, Cyprus. [Martin, K.] City Hosp Nottingham, Dept Cytogenet, Nottingham NG5 1PB, England. [McCullough, S.] Belfast City Hosp, Dept Cytogenet, Belfast BT9 7AD, Antrim, North Ireland. RP Sarkar, A (reprint author), City Hosp Nottingham, Dept Clin Genet, Hucknall Rd, Nottingham NG5 1PB, England. EM ajoy.sarkar@nuh.nhs.uk CR Berg JS, 2007, GENET MED, V9, P427, DOI 10.1097/GIM.0b013e3180986192 Beunders G, 2010, J MED GENET, V47, P271, DOI 10.1136/jmg.2009.070490 Depienne C, 2007, J MED GENET, V44, P452, DOI 10.1136/jmg.2006.047092 Donnai D, 2000, AM J MED GENET, V97, P164, DOI 10.1002/1096-8628(200022)97:2<164::AID-AJMG8>3.0.CO;2-F Kent WJ, 2002, GENOME RES, V12, P996, DOI 10.1101/gr.229102 Kirchhoff M, 2007, EUR J MED GENET, V50, P33, DOI 10.1016/j.ejmg.2006.10.002 Kriek M, 2006, EUR J HUM GENET, V14, P180, DOI 10.1038/sj.ejhg.5201540 Lai CSL, 2001, NATURE, V413, P519, DOI 10.1038/35097076 Merritt JL, 2008, AM J MED GENET A, V146A, P1055, DOI [10.1002/ajmg.a.32235, 10.1002/ajmg.a32235] Orellana C, 2008, J MED GENET, V45, P187, DOI 10.1136/jmg.2007.054064 Phatak V, 2011, J MED GENET, V48, pS59 Sanders SJ, 2011, NEURON, V70, P863, DOI 10.1016/j.neuron.2011.05.002 Somerville MJ, 2005, NEW ENGL J MED, V353, P1694, DOI 10.1056/NEJMoa051962 Stromme P, 2002, J CHILD NEUROL, V17, P269, DOI 10.1177/088307380201700406 Thomas NS, 2006, EUR J HUM GENET, V14, P831, DOI 10.1038/sj.ejhg.5201617 Torniero C, 2008, EUR J HUM GENET, V16, P880, DOI 10.1038/ejhg.2008.42 Torniero C, 2007, EUR J HUM GENET, V15, P62, DOI 10.1038/sj.ejhg.5201730 Van der Aa N, 2009, EUR J MED GENET, V52, P94, DOI 10.1016/j.ejmg.2009.02.006 NR 18 TC 5 Z9 5 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0009-9163 J9 CLIN GENET JI Clin. Genet. PD FEB PY 2013 VL 83 IS 2 BP 155 EP 161 DI 10.1111/j.1399-0004.2012.01862.x PG 7 WC Genetics & Heredity SC Genetics & Heredity GA 065AZ UT WOS:000313120400007 PM 22369319 ER PT J AU Hua, X Thompson, PM Leow, AD Madsen, SK Caplan, R Alger, JR O'Neill, J Joshi, K Smalley, SL Toga, AW Levitt, JG AF Hua, Xue Thompson, Paul M. Leow, Alex D. Madsen, Sarah K. Caplan, Rochelle Alger, Jeffry R. O'Neill, Joseph Joshi, Kishori Smalley, Susan L. Toga, Arthur W. Levitt, Jennifer G. TI Brain growth rate abnormalities visualized in adolescents with autism SO HUMAN BRAIN MAPPING LA English DT Article DE autism spectrum disorder; longitudinal; MRI; tensor-based morphometry; development; white matter ID TENSOR-BASED MORPHOMETRY; MILD COGNITIVE IMPAIRMENT; HIGH-FUNCTIONING AUTISM; IMAGE REGISTRATION; ALZHEIMERS-DISEASE; CORTICAL THICKNESS; SPECTRUM DISORDER; SPATIAL NORMALIZATION; DIAGNOSTIC INTERVIEW; CORPUS-CALLOSUM AB Autism spectrum disorder is a heterogeneous disorder of brain development with wide ranging cognitive deficits. Typically diagnosed before age 3, autism spectrum disorder is behaviorally defined but patients are thought to have protracted alterations in brain maturation. With longitudinal magnetic resonance imaging (MRI), we mapped an anomalous developmental trajectory of the brains of autistic compared with those of typically developing children and adolescents. Using tensor-based morphometry, we created 3D maps visualizing regional tissue growth rates based on longitudinal brain MRI scans of 13 autistic and seven typically developing boys (mean age/interscan interval: autism 12.0 +/- 2.3 years/2.9 +/- 0.9 years; control 12.3 +/- 2.4/2.8 +/- 0.8). The typically developing boys demonstrated strong whole brain white matter growth during this period, but the autistic boys showed abnormally slowed white matter development (P = 0.03, corrected), especially in the parietal (P = 0.008), temporal (P = 0.03), and occipital lobes (P = 0.02). We also visualized abnormal overgrowth in autism in gray matter structures such as the putamen and anterior cingulate cortex. Our findings reveal aberrant growth rates in brain regions implicated in social impairment, communication deficits and repetitive behaviors in autism, suggesting that growth rate abnormalities persist into adolescence. Tensor-based morphometry revealed persisting growth rate anomalies long after diagnosis, which has implications for evaluation of therapeutic effects. Hum Brain Mapp, 2013. (C) 2011 Wiley Periodicals, Inc. C1 [Hua, Xue; Thompson, Paul M.; Leow, Alex D.; Madsen, Sarah K.; Toga, Arthur W.] Univ Calif Los Angeles, Sch Med, Lab Neuro Imaging, Los Angeles, CA 90095 USA. [Alger, Jeffry R.] Univ Calif Los Angeles, Sch Med, Dept Neurol, Ahmanson Lovelace Brain Mapping Ctr, Los Angeles, CA 90095 USA. [Levitt, Jennifer G.] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Semel Inst 47 417C, Div Child Psychiat,Sch Med, Los Angeles, CA 90095 USA. [Leow, Alex D.] Univ Calif Los Angeles, Sch Med, Semel Inst Neurosci, Los Angeles, CA 90095 USA. RP Levitt, JG (reprint author), Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Semel Inst 47 417C, Div Child Psychiat,Sch Med, BOX 951759,760 Westwood Plaza, Los Angeles, CA 90095 USA. EM jlevitt@mednet.ucla.edu RI Leow, Alex/K-3236-2014 OI Leow, Alex/0000-0002-5660-8651 FU National Institutes of Health (NIH) through the NIH Roadmap for Medical Research [U54 RR021813]; National Center for Research Resources (NCRR) of the NIH [P41 RR013642, M01 RR000865]; National Alliance for Autism Research (NAAR) [01082668]; National Institute of Mental Health (NIMH) [5K08 MH01385, MH067187]; National Institute of Neurological Disorders and Stroke (NINDS) [5R01 NS046018, NS32070]; National Institute of Biomedical Imaging and Bioengineering (NIBIB) [R01 EB007813, R01 EB008281, R01 EB008432]; National Institute of Child Health and Human Development (NICHHD) [R01 HD050735]; National Institute on Aging (NIA) [R01 AG020098] FX Contract grant sponsor: National Institutes of Health (NIH) through the NIH Roadmap for Medical Research; Contract grant number: U54 RR021813; Contract grant sponsor: National Center for Research Resources (NCRR), a component of the NIH; Contract grant number: P41 RR013642 and M01 RR000865; Contract grant sponsor: National Alliance for Autism Research (NAAR); Contract grant number: grants 01082668; Contract grant sponsor: National Institute of Mental Health (NIMH); Contract grant number: 5K08 MH01385 and MH067187; Contract grant sponsor: National Institute of Neurological Disorders and Stroke (NINDS); Contract grant number: 5R01 NS046018 and NS32070; Contract grant sponsor: National Institute of Biomedical Imaging and Bioengineering (NIBIB); Contract grant number: R01 EB007813, R01 EB008281, R01 EB008432; Contract grant sponsor: National Institute of Child Health and Human Development (NICHHD); Contract grant number: R01 HD050735; Contract grant sponsor: National Institute on Aging (NIA); Contract grant number: R01 AG020098. 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Brain Mapp. PD FEB PY 2013 VL 34 IS 2 BP 425 EP 436 DI 10.1002/hbm.21441 PG 12 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA 064ZM UT WOS:000313115000015 PM 22021093 ER PT J AU Kataoka, S Takuma, K Hara, Y Maeda, Y Ago, Y Matsuda, T AF Kataoka, Shunsuke Takuma, Kazuhiro Hara, Yuta Maeda, Yuko Ago, Yukio Matsuda, Toshio TI Autism-like behaviours with transient histone hyperacetylation in mice treated prenatally with valproic acid SO INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY LA English DT Article DE Animal model; apoptosis; autism spectrum disorders; histone acetylation; valproate ID CEREBRAL-CORTEX; ANTIEPILEPTIC DRUGS; SPECTRUM DISORDERS; MEMORY FORMATION; MOUSE MODELS; ANIMAL-MODEL; NEURONS; CELLS; MIGRATION; RATS AB Maternal use of valproic acid (VPA) during pregnancy has been implicated in the aetiology of autism spectrum disorders in children, and rodents prenatally exposed to VPA showed behavioural alterations similar to those observed in humans with autism. However, the exact mechanism for VPA-induced behavioural alterations is not known. To study this point, we examined the effects of prenatal exposure to VPA and valpromide, a VPA analog lacking histone deacetylase inhibition activity, on behaviours, cortical pathology and histone acetylation levels in mice. Mice exposed to VPA at embryonic day 12.5 (E12.5), but not at E9 and E14.5, displayed social interaction deficits, anxiety-like behaviour and memory deficits at age 4-8 wk. In contrast to male mice, the social interaction deficits (a decrease in sniffing behaviour) were not observed in female mice at age 8 wk. The exposure to VPA at E12.5 decreased the number of Nissl-positive cells in the middle and lower layers of the prefrontal cortex and in the lower layers of the somatosensory cortex at age 8 wk. Furthermore, VPA exposure caused a transient increase in acetylated histone levels in the embryonic brain, followed by an increase in apoptotic cell death in the neocortex and a decrease in cell proliferation in the ganglionic eminence. In contrast, prenatal exposure to valpromide at E12.5 did not affect the behavioural, biochemical and histological parameters. Furthermore, these findings suggest that VPA-induced histone hyperacetylation plays a key role in cortical pathology and abnormal autism-like behaviours in mice. C1 [Kataoka, Shunsuke; Takuma, Kazuhiro; Hara, Yuta; Maeda, Yuko; Ago, Yukio; Matsuda, Toshio] Osaka Univ, Lab Med Pharmacol, Grad Sch Pharmaceut Sci, Suita, Osaka 5650871, Japan. [Matsuda, Toshio] Kanazawa Univ, Osaka Univ, United Grad Sch Child Dev, Osaka, Japan. [Matsuda, Toshio] Hamamatsu Univ Sch Med, Osaka, Japan. RP Matsuda, T (reprint author), Osaka Univ, Lab Med Pharmacol, Grad Sch Pharmaceut Sci, 1-6 Yamadaoka, Suita, Osaka 5650871, Japan. EM matsuda@phs.osaka-u.ac.jp FU Japan Society for the Promotion FX This study was supported in part by a Grant-in-Aid for Scientific Research from the Japan Society for the Promotion. 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J. Neuropsychopharmacol. PD FEB PY 2013 VL 16 IS 1 BP 91 EP 103 DI 10.1017/S1461145711001714 PG 13 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA 058TX UT WOS:000312658300009 PM 22093185 ER PT J AU Kiani, R Tyrer, F Hodgson, A Berkin, N Bhaumik, S AF Kiani, R. Tyrer, F. Hodgson, A. Berkin, N. Bhaumik, S. TI Urban-rural differences in the nature and prevalence of mental ill-health in adults with intellectual disabilities SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH LA English DT Article DE city-county differences; intellectual disability; mental ill-health; psychiatric disorders; urbanisation; urban-rural differences ID NATIONAL MORBIDITY SURVEY; PSYCHIATRIC-DISORDERS; RISK-FACTORS; MAJOR DEPRESSION; GREAT-BRITAIN; FOLLOW-UP; COMMUNITY; SCHIZOPHRENIA; URBANIZATION; PEOPLE AB Background In the general population there are statistically significant urbanrural differences in the rate of common mental disorders. In people with intellectual disability (ID) no study has attempted to address this issue. Aims To compare the prevalence of mental illness, autism spectrum disorder (ASD) and behaviour disorder in people with ID living in urban areas with those living in rural areas. Methods Cross-sectional study of 2713 individuals registered with an ID service. Participants were assigned to urban or rural groups using the Department for Environment Food and Rural Affairs rural/urban local authority classification for their district. The main outcome variable was a clinical diagnosis of mental illness, ASD and behaviour disorder. Differences between diagnoses of mental illness in urban and rural areas were evaluated using the chi-squared test for the difference in two independent proportions. Results No differences were observed between gender, age and level of ID of service users based on their place of residence. But more people from an ethnic minority background were living in urban areas than rural areas. No differences were observed in the overall prevalence of mental illness by place of residence. However, the results showed that ASD was more common in people living in rural areas. Conclusions We found these results surprising and at odds with the majority of studies carried out in the general population and propose several reasons for the differences found. We believe that the results and further studies in this area will help inform health service provision for those with ID who live in different geographical areas. C1 [Kiani, R.] Leicestershire Partnership NHS Trust, Learning Disabil Serv, Agnes Unit, Leicester LE7 7GL, Leics, England. [Tyrer, F.; Hodgson, A.; Bhaumik, S.] Univ Leicester, Leicester, Leics, England. RP Kiani, R (reprint author), Leicestershire Partnership NHS Trust, Learning Disabil Serv, Agnes Unit, 400 Anstey Lane, Leicester LE7 7GL, Leics, England. EM reza.kiani@leicspart.nhs.uk CR Australian Institute of Health and Welfare, 1998, HLTH RUR REM AUSTR Bhaumik S, 2008, J INTELL DISABIL RES, V52, P986, DOI 10.1111/j.1365-2788.2008.01124.x BLAZER D, 1985, ARCH GEN PSYCHIAT, V42, P651 BLAZER DG, 1994, AM J PSYCHIAT, V151, P979 Boardman AP, 1997, BRIT J PSYCHIAT, V171, P457, DOI 10.1192/bjp.171.5.457 British Medical Association Board of Science, 2005, HEALTHC RUR SETT Cooper SA, 2007, BRIT J PSYCHIAT, V190, P27, DOI 10.1192/bjp.bp.106.022483 CROWELL BA, 1986, BRIT J PSYCHIAT, V149, P307, DOI 10.1192/bjp.149.3.307 Dekker J, 2008, BMC PUBLIC HEALTH, V8, DOI 10.1186/1471-2458-8-17 Department for Environment Food and Rural Affairs, 2005, DEFR CLASS LOC AUTH Eckert KA, 2004, MED J AUSTRALIA, V181, P540 Faris REL, 1939, MENTAL DISORDERS URB Gething L, 1997, DISABIL SOC, V12, P513, DOI 10.1080/09687599727100 Goldberg A.J., 1993, PSYCHIAT CARE MED PA, P87 HARDING L, 1992, J OCCUP ORGAN PSYCH, V65, P269 Judd FK, 2002, AUST NZ J PSYCHIAT, V36, P104, DOI 10.1046/j.1440-1614.2002.00986.x LEE CK, 1990, J NERV MENT DIS, V178, P247, DOI 10.1097/00005053-199004000-00005 LEWIS G, 1992, LANCET, V340, P137, DOI 10.1016/0140-6736(92)93213-7 Lorant V, 2003, AM J EPIDEMIOL, V157, P98, DOI 10.1093/aje/kwf182 MCGROTHER CW, 1993, J PUBLIC HEALTH MED, V15, P263 Najim H, 2005, PSYCHIAT B, V29, P13, DOI 10.1192/pb.29.1.13 National Statistics, 2001, CENS TABL LEIC LEIC NEFF JA, 1987, J COMMUNITY PSYCHOL, V15, P520, DOI 10.1002/1520-6629(198710)15:4<520::AID-JCOP2290150410>3.0.CO;2-0 NEFF JA, 1985, J HEALTH SOC BEHAV, V26, P207, DOI 10.2307/2136753 Nicholson LA, 2008, ADV PSYCHIAT TREATME, V14, P302, DOI DOI 10.1192/APT.BP.107.005009 ONS Geography, 2004, ALL FIELDS POSTC DIR Parikh SV, 1996, J AFFECT DISORDERS, V38, P57, DOI 10.1016/0165-0327(95)00096-8 Paykel E, 2003, INT REV PSYCHIATR, V15, P97, DOI 10.1080/0954026021000046001 Paykel ES, 2000, PSYCHOL MED, V30, P269, DOI 10.1017/S003329179900183X Pedersen CB, 2001, BRIT J PSYCHIAT, V179, P46, DOI 10.1192/bjp.179.1.46 Peters J., 2005, IMPACT RURALITY HLTH ROMANSCLARKSON SE, 1990, BRIT J PSYCHIAT, V156, P84, DOI 10.1192/bjp.156.1.84 Royal College of Psychiatrist, 2001, OP48 ROYAL COLL PSYC SEIVEWRIGHT H, 1991, PSYCHOL MED, V21, P495 Smiley E, 2007, BRIT J PSYCHIAT, V191, P313, DOI 10.1192/bjp.bp.106.031104 SPARROW SS, 1985, J PEDIATR PSYCHOL, V10, P215, DOI 10.1093/jpepsy/10.2.215 Sundquist K, 2004, BRIT J PSYCHIAT, V184, P293, DOI 10.1192/bjp.184.4.293 Tyrer F, 2008, J APPL RES INTELLECT, V21, P268, DOI 10.1111/j.1468-3148.2007.00409.x van Os J, 2001, ARCH GEN PSYCHIAT, V58, P663, DOI 10.1001/archpsyc.58.7.663 Verheij RA, 1996, SOC SCI MED, V42, P923, DOI 10.1016/0277-9536(95)00190-5 Weich S, 2003, J EPIDEMIOL COMMUN H, V57, P616, DOI 10.1136/jech.57.8.616 Weich S, 2006, BRIT J PSYCHIAT, V188, P51, DOI 10.1192/bjp.bp.105.008714 Weich S, 1998, BRIT MED J, V317, P115 NR 43 TC 1 Z9 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0964-2633 J9 J INTELL DISABIL RES JI J. Intell. Disabil. Res. PD FEB PY 2013 VL 57 IS 2 SI SI BP 119 EP 127 DI 10.1111/j.1365-2788.2011.01523.x PG 9 WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry; Rehabilitation SC Education & Educational Research; Genetics & Heredity; Neurosciences & Neurology; Psychiatry; Rehabilitation GA 064ZG UT WOS:000313114200002 PM 22292906 ER PT J AU Felce, D Kerr, M AF Felce, D. Kerr, M. TI Investigating low adaptive behaviour and presence of the triad of impairments characteristic of autistic spectrum disorder as indicators of risk for challenging behaviour among adults with intellectual disabilities SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH LA English DT Article DE challenging behaviour; intellectual disabilities; risk indicators ID SELF-INJURIOUS-BEHAVIOR; PHYSICAL INTERVENTIONS; AGGRESSIVE-BEHAVIOR; TOTAL POPULATION; STAFF WORKING; PREVALENCE; PEOPLE; CHILDREN; PSYCHOPATHOLOGY; PERSISTENCE AB Background Identification of possible personal indicators of risk for challenging behaviour has generally been through association in cross-sectional prevalence studies, but few analyses have controlled for intercorrelation between potential risk factors. The aim was to investigate the extent to which gender, age, presence of the triad of impairments characteristic of autism and level of adaptive behaviour were independently associated with level of challenging behaviour among adults with intellectual disabilities. Methods Five datasets were merged to produce information on challenging behaviour, adaptive behaviour, presence of the triad of impairments, gender and age of 818 adults. Variables were entered into a multivariate linear regression, which also tested the interaction between the presence of the triad of impairments and level of adaptive behaviour. Results Presence of the triad of impairments, level of adaptive behaviour, their interaction, and age, but not gender, significantly and independently contributed to the prediction of challenging behaviour. Presence/absence of the triad of impairments moderated the effect of adaptive behaviour on challenging behaviour. The inverse relationship found in the absence of the triad of impairments was virtually removed when present. Conclusions This study has shown that it is necessary to control for intercorrelation between potential risk factors for challenging behaviour and to explore how interaction between them might moderate associations. C1 [Felce, D.; Kerr, M.] Cardiff Univ, Sch Med, Welsh Ctr Learning Disabil, Cardiff CF14 4YS, S Glam, Wales. RP Felce, D (reprint author), Cardiff Univ, Sch Med, Welsh Ctr Learning Disabil, Hlth Pk, Cardiff CF14 4YS, S Glam, Wales. EM felce@cf.ac.uk CR Aiken L, 1991, MULTIPLE REGRESSION Allen D, 2006, J APPL RES INTELLECT, V19, P356, DOI 10.1111/j.1468-3148.2005.00292.x Allen DG, 2007, J INTELL DISABIL RES, V51, P409, DOI 10.1111/j.1365-2788.2006.00877.x Aman M., 1986, ABERRANT BEHAV CHECK Baxter H, 2006, BRIT J GEN PRACT, V56, P93 Borthwick-Duffy S. A., 1994, DESTRUCTIVE BEHAV DE, P3 Cooper SA, 2009, J INTELL DISABIL RES, V53, P217, DOI 10.1111/j.1365-2788.2008.01127.x Cooper SA, 2009, J INTELL DISABIL RES, V53, P200, DOI 10.1111/j.1365-2788.2008.01060.x Crocker AG, 2006, J INTELL DISABIL RES, V50, P652, DOI 10.1111/j.1365-2788.2006.00815.x Dykens EM, 2000, J CHILD PSYCHOL PSYC, V41, P407, DOI 10.1017/S0021963000005667 Emerson E, 2001, RES DEV DISABIL, V22, P77, DOI 10.1016/S0891-4222(00)00061-5 Emerson E, 2000, J APPL RES INTELLECT, V13, P197, DOI 10.1046/j.1468-3148.2000.00036.x Emerson E., 2008, COMMISSIONING PERSON Emerson E, 2001, RES DEV DISABIL, V22, P67, DOI 10.1016/S0891-4222(00)00062-7 Emerson E, 2001, CHALLENGING BEHAV AN Felce D, 2009, J INTELL DISABIL RES, V53, P243, DOI 10.1111/j.1365-2788.2008.01131.x Felce D, 2003, AM J MENT RETARD, V108, P161, DOI 10.1352/0895-8017(2003)108<0161:RRAPRA>2.0.CO;2 Felce D, 2002, J APPL RES INTELLECT, V15, P404, DOI 10.1046/j.1468-3148.2002.00131.x FREUND LS, 1991, RES DEV DISABIL, V12, P435, DOI 10.1016/0891-4222(91)90037-S Hastings RP, 2002, J INTELLECT DEV DIS, V27, P149, DOI 10.1080/1366825021000008657 Hawkins S, 2005, J APPL RES INTELLECT, V18, P19, DOI 10.1111/j.1468-3148.2004.00207.x Holden B, 2006, RES DEV DISABIL, V27, P456, DOI 10.1016/j.ridd.2005.06.001 HOLMES N, 1982, PSYCHOL MED, V12, P879 Jenkins R, 1997, J INTELL DISABIL RES, V41, P502, DOI 10.1111/j.1365-2788.1997.tb00743.x Jones E, 2001, J APPL RES INTELLECT, V14, P79, DOI 10.1046/j.1468-3148.2001.00064.x Kiernan C., 1997, EXPERIENCES VIEWS PA Kiernan C, 1996, J APPL RES INTELLECT, V9, P181 Lowe K, 2007, J INTELL DISABIL RES, V51, P625, DOI 10.1111/j.1365-2788.2006.00948.x Matson JL, 2008, RES DEV DISABIL, V29, P141, DOI 10.1016/j.ridd.2007.02.001 McClintock K, 2003, J INTELL DISABIL RES, V47, P405, DOI 10.1046/j.1365-2788.2003.00517.x Melville CA, 2008, J AUTISM DEV DISORD, V38, P1676, DOI 10.1007/s10803-008-0549-7 Mitchell G, 2001, AM J MENT RETARD, V106, P448, DOI 10.1352/0895-8017(2001)106<0448:CBAEIS>2.0.CO;2 Mohr C, 2005, J INTELL DISABIL RES, V49, P469, DOI 10.1111/j.1365-2788.2005.00701.x Morgan C. N., 2002, PSYCHIAT B, V26, P127, DOI 10.1192/pb.26.4.127 Nihira K., 1993, ADAPTIVE BEHAV SCALE Perry J, 2005, AM J MENT RETARD, V110, P121, DOI 10.1352/0895-8017(2005)110<121:FAWOIC>2.0.CO;2 Qureshi H., 1992, MENT HANDICAP RES, V5, P130 Rojahn J, 2003, RES DEV DISABIL, V24, P391, DOI 10.1016/S0891-4222(03)00055-6 Totsika V, 2011, J CHILD PSYCHOL PSYC, V52, P91, DOI 10.1111/j.1469-7610.2010.02295.x Tyrer F, 2006, J INTELL DISABIL RES, V50, P295, DOI 10.1111/j.1365-2788.2005.00774.x WATERHOUSE L, 1992, J AUTISM DEV DISORD, V22, P525, DOI 10.1007/BF01046326 Windahl S.I., 1988, 8 C INT ASS SCI STUD WING L, 1979, J AUTISM DEV DISORD, V9, P11, DOI 10.1007/BF01531288 Wing Lorna, 1988, DIAGNOSIS ASSESSMENT, P91 NR 44 TC 2 Z9 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0964-2633 J9 J INTELL DISABIL RES JI J. Intell. Disabil. Res. PD FEB PY 2013 VL 57 IS 2 SI SI BP 128 EP 138 DI 10.1111/j.1365-2788.2011.01524.x PG 11 WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry; Rehabilitation SC Education & Educational Research; Genetics & Heredity; Neurosciences & Neurology; Psychiatry; Rehabilitation GA 064ZG UT WOS:000313114200003 PM 22292930 ER PT J AU Khanna, R Jariwala, K West-Strum, D AF Khanna, R. Jariwala, K. West-Strum, D. TI Use and cost of psychotropic drugs among recipients with autism in a state Medicaid fee-for-service programme SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH LA English DT Article DE autism; costs; Medicaid; psychotropic drugs ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDERS; CHILDREN; PREVALENCE; INDIVIDUALS; DIAGNOSIS; SYMPTOMS; CARE AB Background There has been a significant increase in the prevalence of autism in the USA in the past few decades. The purpose of this study was to provide recent estimates of psychotropic drug use and costs among individuals with autism enrolled in Medicaid programme. Method A cross-sectional analysis of 2007 Mississippi (MS) Medicaid fee-for-service (FFS) programme administrative-claims data was performed. Study sample included recipients (<65 years) who had a medical services claim with a diagnosis of autism in 2007. Psychotropic drug patterns of use and costs were studied. Factors predicting the use of psychotropic drugs were identified using logistic regression analyses. Average number and cost of psychotropic drug claims per recipient were reported. Costs were reported from the perspective of MS Medicaid. Results In 2007, there were 1330 recipients with a diagnosis of autism in MS Medicaid FFS programme. Among these recipients, 66.32% had a claim for psychotropic drug during the year. Roughly 39% of recipients with autism had a claim for antipsychotics, 31.58% for stimulants, 19.55% for antidepressants, 19.40% for other psychotropics and 14.81% for anxiolytics/hypnotics/sedatives. Results from regression analyses highlighted variation in psychotropic drug use by demographic and co-morbid factors. There were a total of 12 618 claims for psychotropic drugs filled by recipients with autism in 2007, at an average of 14 (+/- 12) claims per recipient. The total cost of these claims paid for by MS Medicaid FFS programme was similar to$2 million. Antipsychotics accounted for more than half (similar to 58%) of the total costs, and had the highest average cost per claim ($291 +/- 205). Conclusions The results of this study indicate a high use of psychotropic drugs among individuals with autism enrolled in a state Medicaid programme. There is an urgent need to study the riskbenefit profile of these drugs in this growing population. Psychotropic drug use was found to vary by demographic and co-morbid factors. Among the different classes of psychotropic drugs, antipsychotics were the most commonly used and had the highest cost per claim. C1 [Khanna, R.; Jariwala, K.; West-Strum, D.] Univ Mississippi, Sch Pharm, University, MS 38677 USA. RP Khanna, R (reprint author), Univ Mississippi, Sch Pharm, Faser Hall 236,POB 1848, University, MS 38677 USA. EM rkhanna@olemiss.edu CR Aman MG, 2005, J CLIN PSYCHIAT, V66, P38 American Psychiatric Association, 2000, DIAGN STAT MAN MENT Billstedt E, 2005, J AUTISM DEV DISORD, V35, P351, DOI 10.1007/s10803-005-3302-5 Esbensen AJ, 2009, J AUTISM DEV DISORD, V39, P1339, DOI 10.1007/s10803-009-0750-3 Findling RL, 2005, J CLIN PSYCHIAT, V66, P26 Fombonne E, 2003, J AUTISM DEV DISORD, V33, P365, DOI 10.1023/A:1025054610557 GILLBERG C, 1981, J AUTISM DEV DISORD, V11, P365 Holburn CS, 2008, INTELLECT DEV DISAB, V46, P243, DOI 10.1352/2008.46:243-246 Jacobson J, 1998, BEHAV INTERVENT, V13, P201, DOI DOI 10.1002/(SICI)1099-078X Kogan MD, 2009, PEDIATRICS, V124, P1395, DOI 10.1542/peds.2009-1522 Kutcher S.P., 1997, PSYCHOPHARMACOLOGIC Langworthy-Lam KS, 2002, J CHILD ADOL PSYCHOP, V12, P311, DOI 10.1089/104454602762599853 Mandell DS, 2002, J AM ACAD CHILD PSY, V41, P1447, DOI 10.1097/01.CHI.0000024863.60748.53 Mandell DS, 2008, PEDIATRICS, V121, pE441, DOI 10.1542/peds.2007-0984 Mayes SD, 1999, INFANT YOUNG CHILD, V12, P90 McPheeters ML, 2011, PEDIATRICS, V127, pE1312, DOI 10.1542/peds.2011-0427 Nicholas JS, 2008, ANN EPIDEMIOL, V18, P130, DOI 10.1016/i.annepidem.2007.10.013 Oswald DP, 2007, J CHILD ADOL PSYCHOP, V17, P348, DOI 10.1089/cap.2006.17303 Périsse Didier, 2010, J Can Acad Child Adolesc Psychiatry, V19, P100 Posey DJ, 2008, J CLIN INVEST, V118, P6, DOI 10.1172/JCI32483 Rosenberg RE, 2010, J AUTISM DEV DISORD, V40, P342, DOI 10.1007/s10803-009-0878-1 Rubin DM, 2009, PEDIATRICS, V124, pE305, DOI 10.1542/peds.2008-3713 Ruble LA, 2005, J AUTISM DEV DISORD, V35, P3, DOI 10.1007/s10803-004-1026-6 Szpir M, 2006, ENVIRON HEALTH PERSP, V114, pA412 Tsai LY, 1999, PSYCHOSOM MED, V61, P651 NR 25 TC 2 Z9 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0964-2633 J9 J INTELL DISABIL RES JI J. Intell. Disabil. Res. PD FEB PY 2013 VL 57 IS 2 SI SI BP 161 EP 171 DI 10.1111/j.1365-2788.2012.01563.x PG 11 WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry; Rehabilitation SC Education & Educational Research; Genetics & Heredity; Neurosciences & Neurology; Psychiatry; Rehabilitation GA 064ZG UT WOS:000313114200006 PM 22471524 ER PT J AU Bigham, K Daley, DM Hastings, RP Jones, RSP AF Bigham, K. Daley, D. M. Hastings, R. P. Jones, R. S. P. TI Association between parent reports of attention deficit hyperactivity disorder behaviours and child impulsivity in children with severe intellectual disability SO JOURNAL OF INTELLECTUAL DISABILITY RESEARCH LA English DT Article DE ADHD; Cookie Delay Task; hyperactivity; impulsivity; intellectual disability ID DIFFICULTIES QUESTIONNAIRE; MENTAL-RETARDATION; ADHD; SYMPTOMS; STRENGTHS; AUTISM; SCALES AB Background Although children with intellectual disability (ID) seemed to be at increased risk for Attention deficit hyperactivity disorder (ADHD)/hyperactivity problems when assessed with parent report questionnaires and clinical interviews, there has been little attention to the associations between parent reports and observed child behaviours. The purpose of the present study was to compare clinical symptoms and observed impulsivity in children with ID whose parents reported them as being relatively high and low in ADHD symptoms, and to examine whether any differences were associated with developmental level. Methods Parents of 28 children with ID completed a behaviour rating scale of hyperactivity symptoms. Parents were also interviewed using a robust clinical interview tool focused on hyperactivity symptoms. The children were all tested by an experimenter to measure their impulsive behaviour. Results Those children with clinical range scores on parent questionnaire ratings were also reported by parents to have more ADHD symptoms using a parent report clinical interview. Although these children were also more impulsive on an experimental task, when children's developmental ages were statistically controlled impulsivity differences disappeared. Conclusions Parent reports of ADHD symptoms in children with ID may be positively associated with data derived using clinical interview methods, but they may be less sensitive to developmental expectations when compared with observed child behaviour. Practical implications include the need for multiple sources of information and normative data for children with ID on simple experimental tasks that can be used to aid diagnosis of ADHD in clinical settings. C1 [Bigham, K.; Hastings, R. P.; Jones, R. S. P.] Bangor Univ, Sch Psychol, Bangor LL57 2AS, Gwynedd, Wales. [Bigham, K.; Jones, R. S. P.] Betsi Cadwaladr Univ Hlth Board, Bangor, Gwynedd, Wales. [Daley, D. M.] Univ Nottingham, Sch Community Hlth Sci, Nottingham NG7 2RD, England. RP Hastings, RP (reprint author), Bangor Univ, Sch Psychol, Bangor LL57 2AS, Gwynedd, Wales. EM r.hastings@bangor.ac.uk RI Hastings, Richard/D-9657-2013 OI Hastings, Richard/0000-0002-0495-8270 CR Achenbach TM, 1991, MANUAL CHILD BEHAV C American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Baker BL, 2010, J CLIN CHILD ADOLESC, V39, P492, DOI 10.1080/15374416.2010.486321 Beck A, 2004, J INTELLECT DEV DIS, V29, P339, DOI 10.1080/13668250400014509 CAMPBELL SB, 1982, J ABNORM CHILD PSYCH, V10, P569, DOI 10.1007/BF00920755 Carter AS, 1998, J AUTISM DEV DISORD, V28, P287, DOI 10.1023/A:1026056518470 Dekker MC, 2003, J AM ACAD CHILD PSY, V42, P915, DOI 10.1097/01.CHI.0000046892.27264.1A Elander J, 1996, INT J METHOD PSYCH, V6, P63, DOI 10.1002/(SICI)1234-988X(199607)6:2<63::AID-MPR151>3.3.CO;2-M Emerson C, 2007, BRIT J PSYCHIAT, V191, P439 FEE VE, 1994, RES DEV DISABIL, V15, P67, DOI 10.1016/0891-4222(94)90039-6 Goodman R, 1999, J ABNORM CHILD PSYCH, V27, P17, DOI 10.1023/A:1022658222914 Goodman R, 1997, J CHILD PSYCHOL PSYC, V38, P581, DOI 10.1111/j.1469-7610.1997.tb01545.x Handen BL, 1998, J ABNORM CHILD PSYCH, V26, P269, DOI 10.1023/A:1022654417460 Handen BL, 2007, J DEV PHYS DISABIL, V19, P579, DOI 10.1007/s10882-007-9071-7 Hastings RP, 2005, RES DEV DISABIL, V26, P456, DOI 10.1016/j.ridd.2004.10.003 Pearson DA, 1996, AM J MENT RETARD, V100, P592 Simonoff E, 2007, J AM ACAD CHILD PSY, V46, P591, DOI 10.1097/chi.0b013e3180323330 Sonuga-Barke EJS, 2003, J AM ACAD CHILD PSY, V42, P1335, DOI 10.1097/01.chi.0000087564.34977.21 Sparrow S, 1984, VINELAND ADAPTIVE BE Taylor E., 2006, ATTENTION DEFICIT HY, P3, DOI 10.1016/B978-0-7506-7574-1.50008-6 Taylor E, 1991, EPIDEMIOLOGY CHILDHO Totsika V, 2011, J CHILD PSYCHOL PSYC, V52, P91, DOI 10.1111/j.1469-7610.2010.02295.x NR 22 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0964-2633 J9 J INTELL DISABIL RES JI J. Intell. Disabil. Res. PD FEB PY 2013 VL 57 IS 2 SI SI BP 191 EP 197 DI 10.1111/j.1365-2788.2011.01522.x PG 7 WC Education, Special; Genetics & Heredity; Clinical Neurology; Psychiatry; Rehabilitation SC Education & Educational Research; Genetics & Heredity; Neurosciences & Neurology; Psychiatry; Rehabilitation GA 064ZG UT WOS:000313114200009 PM 22292862 ER PT J AU Vonk, J Zeigler-Hill, V Mayhew, P Mercer, S AF Vonk, Jennifer Zeigler-Hill, Virgil Mayhew, Patricia Mercer, Sterett TI Mirror, mirror on the wall, which form of narcissist knows self and others best of all? SO PERSONALITY AND INDIVIDUAL DIFFERENCES LA English DT Article DE Narcissism; Perspective-taking; Empathy; Causal-reasoning; Emotional intelligence ID HIGH-FUNCTIONING AUTISM; NORMAL SEX-DIFFERENCES; ASPERGER-SYNDROME; PATHOLOGICAL NARCISSISM; EMOTIONAL INTELLIGENCE; PERSONALITY-INVENTORY; ADULTS; MIND; EMPATHY; VALIDATION AB We examined the relationships of narcissism and its various facets with measures of cognition, such as perspective-taking/theory of mind, emotional intelligence, empathy, and systemizing, in a non-clinical sample of 368 undergraduate students. Social and physical causal reasoning was assessed using a novel procedure, which allowed for a thorough examination of participants' attributions of causes to social and non-social events. Results revealed that individuals high in grandiosity scored higher on measures of social reasoning, emotional intelligence, perspective-taking, systemizing, and empathy. Other facets of narcissism, as well as the overall construct of narcissism, were negatively associated with emotional intelligence, empathy, and perspective-taking. These results suggest that the facets of narcissism may differ considerably in their associations with various aspects of social cognition, which should prompt researchers to further examine the heterogeneous nature of narcissism. Published by Elsevier Ltd. C1 [Vonk, Jennifer] Oakland Univ, Dept Psychol, Rochester, MI 48309 USA. [Mayhew, Patricia] Univ So Mississippi, Hattiesburg, MS 39406 USA. [Mercer, Sterett] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada. RP Vonk, J (reprint author), Oakland Univ, Dept Psychol, 2200 N Squirrel Rd, Rochester, MI 48309 USA. EM vonk@oakland.edu CR Ackerman RA, 2011, ASSESSMENT, V18, P67, DOI 10.1177/1073191110382845 American Psychiatric Association, 2000, DIAGN STAT MAN MENT Ames DR, 2004, J NONVERBAL BEHAV, V28, P187, DOI 10.1023/B:JONB.0000039649.20015.0e Baron-Cohen S, 2009, ANN NY ACAD SCI, V1156, P68, DOI 10.1111/j.1749-6632.2009.04467.x Baron-Cohen S, 2004, J AUTISM DEV DISORD, V34, P163, DOI 10.1023/B:JADD.0000022607.19833.00 Baron-Cohen S, 2003, PHILOS T ROY SOC B, V358, P361, DOI 10.1098/rstb.2002.1206 Baron-Cohen S, 2001, J CHILD PSYCHOL PSYC, V42, P241, DOI 10.1017/S0021963001006643 Baron-Cohen Simon, 1995, MINDBLINDNESS ESSAY Besser A, 2010, J RES PERS, V44, P520, DOI 10.1016/j.jrp.2010.06.006 Brown RP, 2009, PERS SOC PSYCHOL B, V35, P951, DOI 10.1177/0146167209335461 Campbell W. 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PD FEB PY 2013 VL 54 IS 3 BP 396 EP 401 DI 10.1016/j.paid.2012.10.010 PG 6 WC Psychology, Social SC Psychology GA 062MV UT WOS:000312924800014 ER PT J AU Monahan, M Classen, S Helsel, PV AF Monahan, Miriam Classen, Sherrilene Helsel, Patty V. TI Pre-driving evaluation of a teen with attention deficit hyperactivity disorder and autism spectrum disorder SO CANADIAN JOURNAL OF OCCUPATIONAL THERAPY-REVUE CANADIENNE D ERGOTHERAPIE LA English DT Article DE Adolescents; Attention-deficit disorder with hyperactivity; Automobile driving; Pervasive disorders ID DEFICIT/HYPERACTIVITY DISORDER; PERFORMANCE; CHILDREN; ADULTS AB Background. Vehicle crashes are the leading cause of death among teens, and those teens with attention-deficit/hyperactivity disorder and autism spectrum disorder (ADHD/ASD) may have a greater crash risk. Purpose. This case study compared the pre-driving skills of a teen with ADHD/ASD to an age-and gender-matched healthy control (HC). Method. Data were collected from performance on clinical tests and on a driving simulator. Findings. The main impairments of the teen with ADHD/ASD were the ability to shift attention, perform simple sequential tasks, integrate visual-motor responses, and coordinate motor responses, whereas the HC demonstrated intact skills in these abilities. The teen with ADHD/ASD made 44 driving errors during the drive, and the HC made 17. The teen with ADHD/ASD had more lane maintenance, visual scanning, and speeding errors compared to the HC. Implications. Teens with ADHD/ASD may have more pre-driving deficits and may require a certified driving rehabilitation specialist to assess readiness to drive, but a larger study is needed to confirm this. C1 [Monahan, Miriam] Univ Florida, Coll Publ Hlth & Hlth Profess, Inst Mobil Act & Participat, Dept Occupat Therapy, Gainesville, FL 32610 USA. [Classen, Sherrilene] Univ Florida, Coll Publ Hlth & Hlth Profess, Dept Occupat Therapy, Gainesville, FL 32610 USA. [Classen, Sherrilene] Univ Florida, Coll Publ Hlth & Hlth Profess, Inst Mobil Act & Participat, Gainesville, FL 32610 USA. [Helsel, Patty V.] Shands Rehab Ctr Kids Magnolia Parke, Gainesville, FL 32606 USA. RP Classen, S (reprint author), Univ Florida, Coll Publ Hlth & Hlth Profess, Dept Occupat Therapy, POB 100164, Gainesville, FL 32610 USA. EM sclassen@phhp.ufl.edu FU University of Florida and Shands FX This study received funding from the 2011-2012 University of Florida and Shands. CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Barkley RA, 2004, PSYCHIAT CLIN N AM, V27, P233, DOI 10.1016/S0193-953X(03)00091-1 Beery K, 2010, BEERY BUKTENICA DEV Bruininks R. H., 2005, BRUININKS OSERETSKY Centers for Disease Control and Prevention, 2008, TEEN DRIV FACT SHEET Centers for Disease Control and Prevention, 2012, DAT STAT AUT SPECTR Visser S. 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J. Occup. Ther. PD FEB PY 2013 VL 80 IS 1 BP 35 EP 41 DI 10.1177/0008417412474221 PG 7 WC Rehabilitation SC Rehabilitation GA 302HS UT WOS:000330595300006 PM 23550495 ER PT J AU Armstrong, K Kimonis, ER AF Armstrong, Kathleen Kimonis, Eva R. TI Parent-Child Interaction Therapy for the Treatment of Asperger's Disorder in Early Childhood: A Case Study SO CLINICAL CASE STUDIES LA English DT Article DE parent training; Asperger's disorder; PCIT ID DISRUPTIVE BEHAVIOR; EARLY INTERVENTION; YOUNG-CHILDREN; ADOLESCENTS; AUTISM; SPECTRUM; FAMILIES; TRIAL; MODEL AB Almost half of all children diagnosed with Asperger's disorder (ASP) present with comorbid behavioral difficulties associated with attention deficit/hyperactivity disorder, oppositional defiant disorder, conduct disorder, obsessive-compulsive disorder, and generalized anxiety disorders. Children with ASP often are noncompliant, aggressive, and difficult for parents to manage, which may prevent these children from participating in school and community activities, thus contributing to reduced opportunities for development of important skills. Finding effective interventions to treat these behavioral issues remains a clinical priority to improve overall outcomes for these children. This case study presents the treatment of a 5-year-old boy with ASP and severe behavior problems using Parent-Child Interaction Therapy, an empirically supported behavioral parenting intervention developed for young children with disruptive behavior disorders. Findings from this case report documented (a) an improvement in behavioral functioning that was maintained at follow-up and (b) provided support for utilizing this evidenced-based treatment to improve functioning of young children with ASP and comorbid disruptive behavior disorders. C1 [Armstrong, Kathleen; Kimonis, Eva R.] Univ S Florida, Tampa, FL USA. RP Armstrong, K (reprint author), Childrens Med Serv, 13101 N Bruce B Downs Blvd, Tampa, FL 33612 USA. EM karmstro@health.usf.edu CR Achenbach T, 2000, MANUAL ASEBA PRESCHO American Psychiatric Association, 2000, DIAGN STAT MAN MENT Bagner DM, 2007, J CLIN CHILD ADOLESC, V36, P418 Brereton AV, 2006, J AUTISM DEV DISORD, V36, P863, DOI 10.1007/s10803-006-0125-y Brinkmeyer MY, 2003, EVIDENCE-BASED PSYCHOTHERAPIES FOR CHILDREN AND ADOLESCENTS, P204 Brookman-Frazee L, 2009, APPLIED BEHAVIOR ANALYSIS FOR CHILDREN WITH AUTISM SPECTRUM DISORDERS, P237, DOI 10.1007/978-1-4419-0088-3_14 Butter EM, 2006, BEHAV INTERVENT, V21, P227, DOI 10.1002/bin.225 Center for Autism and Developmental Disabilities Epidemiology, 2012, FACT SHEET Centers for Disease Control and Prevention (CDC), 2012, AUT SPECTR DIS ASDS Chaflant A. 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Department of Education, 2004, INDIVIDUALS DISABILI van Steensel FJA, 2011, CLIN CHILD FAM PSYCH, V14, P302, DOI 10.1007/s10567-011-0097-0 Wechsler D., 2002, WECHSLER PRESCHOOL P, V3rd NR 40 TC 1 Z9 1 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1534-6501 EI 1552-3802 J9 CLIN CASE STUD JI Clin. Case Stud. PD FEB PY 2013 VL 12 IS 1 BP 60 EP 72 DI 10.1177/1534650112463429 PG 13 WC Psychology, Clinical; Psychiatry SC Psychology; Psychiatry GA AW9OL UT WOS:000346586800004 ER PT J AU Boudreau, J Harvey, MT AF Boudreau, Jordan Harvey, Mark T. TI Increasing Recreational Initiations for Children Who Have ASD Using Video Self Modeling SO EDUCATION AND TREATMENT OF CHILDREN LA English DT Article ID AUTISM SPECTRUM DISORDERS; OF-THE-LITERATURE; SOCIAL-SKILLS; INTERVENTION; PERSPECTIVE; INSTRUCTION; STUDENTS; ADULTS AB The current study examined the effects of video self modeling (VSM) on social initiations using a multiple baseline across participants experimental design. Three students with Autism Spectrum Disorders (ASD) watched videos of themselves engaged in typical, age appropriate social initiations prior to playtime with a triad of peers. A partial interval recording system was used to measure social initiations of students with ASD and typically developing peers. The percentage of intervals during which students with ASD exhibited play initiations increased to levels comparable to typically developing peers for all three participants. Two students with ASD demonstrated elevated levels of initiations during a maintenance probe conducted two weeks post-intervention. The efficiency of using VSM within a social skills curriculum, limitations of the current study, and future directions for VSM are discussed. C1 [Boudreau, Jordan; Harvey, Mark T.] Florida Inst Technol, Melbourne, FL 32901 USA. RP Harvey, MT (reprint author), Florida Inst Technol, Dept Psychol, 150 W Univ Ave, Melbourne, FL 32901 USA. EM mharvey@fit.edu CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Ayres KM, 2005, EDUC TRAIN DEV DISAB, V40, P183 Bandura A, 2001, ANNU REV PSYCHOL, V52, P1, DOI 10.1146/annurev.psych.52.1.1 Bellini S, 2007, EXCEPT CHILDREN, V73, P264 Buggey T., 2005, FOCUS AUTISM OTHER D, V20, P52, DOI DOI 10.1177/10883576050200010501 Buggey T., 1999, J POSIT BEHAV INTERV, V1, P205, DOI 10.1177/109830079900100403 Charlop M. 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TI A Comparison of Two Variations of the High-Probability Instructional Sequence with a Child with Autism SO EDUCATION AND TREATMENT OF CHILDREN LA English DT Article DE Autism; Compliance; High-Probability Instructional Sequence; Non-Compliance; Behavioral Momentum ID INJURIOUS ESCAPE BEHAVIOR; EXTINCTION; MOMENTUM; INCREASE; NONCOMPLIANCE; DISABILITIES; ACCEPTANCE; FOOD AB Children who engage in low rates of compliance can be at a, serious disadvantage relative to peers in important areas of learning, and also be at risk for more restrictive placements and long-term dependence on others more generally. One intervention, the high-probability (high-p) instructional sequence, has involved a variety of results. There is still much to learn about the mechanisms responsible for behavior change in high-p sequences. The present study compared two variations of the high-p sequence: maintenance and leisure high-p tasks, on the compliance of a young child with autism. 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TI Training Behavioral Research Methods to Staff in an Early and Intensive Behavioral Intervention Setting: A Program Description and Preliminary Evaluation SO EDUCATION AND TREATMENT OF CHILDREN LA English DT Article DE Autism Treatment; Behavioral Skills Training; Early and Intensive Behavioral Intervention; Single-Case Design Research; Staff Training; Scientist-Practitioner Model ID CHILDREN; AUTISM; SKILLS AB The extensive clinical activity occurring in the area of early and intensive behavioral intervention (EIBI) for children with autism represents a promising opportunity to conduct research on clinically relevant problems and on effectiveness and efficiency of various procedures. However, many practitioners providing these services may not have received adequate training in conducting single-case design research in field settings. Training practitioners to implement such research has the potential to improve the use of the scientist-practitioner model in these settings and expand the base of scientific knowledge in this area. Through the current training program, we used a modified behavioral skills training (BST) approach to teach practitioners to prepare and implement single-case design research protocols in an applied setting. Participants were able to learn and apply a number of important research skills as evidenced by statistically significant improvements on six tests throughout training and high scores on homework assignments that required staff to engage in various research-related behaviors. The results are discussed in the context of preparing EIBI settings for greater research productivity. C1 [Love, Jessa R.; Carr, James E.; LeBlanc, Linda A.; Kisamore, April N.] Western Michigan Univ, Kalamazoo, MI 49008 USA. 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PD FEB PY 2013 VL 32 IS 4 BP 211 EP 222 DI 10.1177/0271121411404930 PG 12 WC Education, Special SC Education & Educational Research GA 052PR UT WOS:000312210900002 ER PT J AU Vismara, LA Young, GS Rogers, SJ AF Vismara, Laurie A. Young, Gregory S. Rogers, Sally J. TI Community Dissemination of the Early Start Denver Model: Implications for Science and Practice SO TOPICS IN EARLY CHILDHOOD SPECIAL EDUCATION LA English DT Article DE Early Start Denver Model; implementation research; early intervention; Autism Spectrum Disorder; fidelity training ID YOUNG-CHILDREN; IMPLEMENTATION; AUTISM; DISORDERS; PROVIDERS; FIDELITY AB The growing number of Autism Spectrum Disorder cases exceeds the services available for these children. This increase challenges both researchers and service providers to develop systematic, effective dissemination strategies for transporting university research models to community early intervention (EI) programs. The current study developed an abbreviated training workshop to teach the Early Start Denver Model (ESDM) to 24 community EI practitioners and examined their fidelity of implementation posttraining and 4 months later. Practitioners successfully implemented and self-assessed their delivery of the ESDM teaching strategies compared with fidelity ratings by expert trainers by the end of the workshop. Those who submitted follow-up materials met fidelity in their direct delivery, whereas their self-assessment of skill delivery appeared lower compared with trainers' fidelity ratings. Findings are discussed about the immediate gains and challenges of community-based dissemination of the ESDM, and the priority for continued research in implementation science to support and sustain intervention delivery. C1 [Vismara, Laurie A.; Young, Gregory S.; Rogers, Sally J.] UC Davis MIND Inst, Sacramento, CA 95817 USA. 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PD FEB PY 2013 VL 32 IS 4 BP 223 EP 233 DI 10.1177/0271121411409250 PG 11 WC Education, Special SC Education & Educational Research GA 052PR UT WOS:000312210900003 ER PT J AU Hughett, K Kohler, FW Raschke, D AF Hughett, Kristy Kohler, Frank W. Raschke, Donna TI The Effects of a Buddy Skills Package on Preschool Children's Social Interactions and Play SO TOPICS IN EARLY CHILDHOOD SPECIAL EDUCATION LA English DT Article DE interaction; peer-mediated ID YOUNG-CHILDREN; BEHAVIOR; AUTISM; INTERVENTION; MAINTENANCE; INITIATIONS; CLASSROOM; PEERS AB The purpose of this study was to examine the impact of a buddy skills package on the social and play interactions between three preschoolers with developmental delays and their peers. Each child participated in sociodramatic play activities with two peers who exhibited age-appropriate social and play skills. Following baseline, the children participated in three sessions of training on the strategies of stay, play, and talk with your friends. 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San Aniceto, Inigo Cubelos, Beatriz Nieto, Marta TI Enrichment of Conserved Synaptic Activity-Responsive Element in Neuronal Genes Predicts a Coordinated Response of MEF2, CREB and SRF SO PLOS ONE LA English DT Article ID ACTIVITY-DEPENDENT REGULATION; AUTISM SPECTRUM DISORDERS; EXPRESSION; PROTEINS; MEMORY; HOMER; TRANSCRIPTION; HIPPOCAMPAL; REQUIREMENT; PLASTICITY AB A unique synaptic activity-responsive element (SARE) sequence, composed of the consensus binding sites for SRF, MEF2 and CREB, is necessary for control of transcriptional upregulation of the Arc gene in response to synaptic activity. We hypothesize that this sequence is a broad mechanism that regulates gene expression in response to synaptic activation and during plasticity; and that analysis of SARE-containing genes could identify molecular mechanisms involved in brain disorders. To search for conserved SARE sequences in the mammalian genome, we used the SynoR in silico tool, and found the SARE cluster predominantly in the regulatory regions of genes expressed specifically in the nervous system; most were related to neural development and homeostatic maintenance. Two of these SARE sequences were tested in luciferase assays and proved to promote transcription in response to neuronal activation. Supporting the predictive capacity of our candidate list, up-regulation of several SARE containing genes in response to neuronal activity was validated using external data and also experimentally using primary cortical neurons and quantitative real time RT-PCR. The list of SARE-containing genes includes several linked to mental retardation and cognitive disorders, and is significantly enriched in genes that encode mRNA targeted by FMRP (fragile X mental retardation protein). Our study thus supports the idea that SARE sequences are relevant transcriptional regulatory elements that participate in plasticity. In addition, it offers a comprehensive view of how activity-responsive transcription factors coordinate their actions and increase the selectivity of their targets. Our data suggest that analysis of SARE-containing genes will reveal yet-undescribed pathways of synaptic plasticity and additional candidate genes disrupted in mental disease. C1 [Rodriguez-Tornos, Fernanda M.; Nieto, Marta] CSIC, CNB, Madrid, Spain. [San Aniceto, Inigo] Univ Complutense Madrid, Fac Informat, Madrid, Spain. [Cubelos, Beatriz] Univ Autonoma Madrid, Ctr Biol Mol Severo Ochoa, Madrid, Spain. RP Nieto, M (reprint author), CSIC, CNB, Darwin 3,Campus Cantoblanco, Madrid, Spain. EM mnlopez@cnb.csic.es RI Nieto, Marta/F-1434-2013 FU Ministerio de Ciencia e Innovacion (MICINN) [SAF2008-00211, PIE- 200820I166]; Spanish Comunidad de Madrid [CCG08-CSIC/SAL-3464] FX This work was funded by the Ministerio de Ciencia e Innovacion (MICINN) grants (SAF2008-00211; PIE- 200820I166), and a grant from the Spanish Comunidad de Madrid CCG08-CSIC/SAL-3464. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Neurosci. Methods PD JAN 30 PY 2013 VL 212 IS 2 BP 242 EP 246 DI 10.1016/j.jneumeth.2012.10.007 PG 5 WC Biochemical Research Methods; Neurosciences SC Biochemistry & Molecular Biology; Neurosciences & Neurology GA 104EJ UT WOS:000315974200010 PM 23137653 ER PT J AU Laszlo, A Novak, Z Szollosi-Varga, I Hai, DQ Vetro, A Kovacs, A AF Laszlo, Aranka Novak, Zoltan Szollosi-Varga, Ilona Hai, Du Quai Vetro, Agnes Kovacs, Attila TI BLOOD LIPID PEROXIDATION, ANTIOXIDANT ENZYME ACTIVITIES AND HEMORHEOLOGICAL CHANGES IN AUTISTIC CHILDREN SO IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE LA English DT Article DE lipid peroxidation (LP); plasma; red blood cell haemolysate; antioxidant enzymes; RBC deformability ID OXIDATIVE STRESS; SPECTRUM DISORDERS; SEROTONIN AB Objectives - Early infantile autism is a severe form of childhood psychiatric disease with characteristic symptoms. Hyperserotoninaemia in 43.5%, lactic acidosis 43% and hyperpyruvataemia in 30% were biochemically demonstrated in autistic children. Our earlier results led to the postulation that a disequilibrium in the blood redox is involved in infantile autism; the oxidative loading and the antioxidant defending enzyme system were investigated together with the hemorheological parameters in infantile autism. Methods - Malonyl-dialdehyde (MDA) endproduct of lipid peroxidation and activities of the antioxidant enzymes: superoxide dismutase (SOD), catalase (C-ase), glutathione peroxidase (GP-ase) and reduced glutathione (GSH) were biochemically determined from plasma and red blood cells. Patients - The antioxidant specificities were investigated in plasma and red blood cell haemolysate from 25 infantile autistic children. Results - Significantly increased superoxide dismutase (SOD) (2.89 vs. 1.32 U/mg protein, p<0.01) and decreased glutathione peroxidase (0.620 vs. 0.910 U/mg protein, p<0.01) levels as well as catalase (0.463 vs. 4.948 BU/mg protein, p<0.001) activities were detected; while the plasma and erythrocyte lipid peroxidation and the reduced glutathione (GSH) levels did not change. The results of the investigated prooxidant and the antioxidant status provide evidence that there exists an oxidative stress in children with infantile autism. While investigating the hemorheological parameters of 25 infantile autistic patients, some characteristic pathological parameters were detected: the initial filtration rate (Fi) (0.72 vs. 0.75 p<0,01) and the clogging rate (CR) (1.926 vs. 2.912, p<0.01) values of red blood cells (RBC) decreased while the mean transit time (Tc) (8.93 vs. 7.39, p<0.001) increased suggesting reduced RBC deformability. C1 [Laszlo, Aranka; Novak, Zoltan] Univ Szeged, Dept Pediat, H-6720 Szeged, Hungary. [Szollosi-Varga, Ilona; Hai, Du Quai] Univ Szeged, Dept Biochem & Mol Biol, H-6720 Szeged, Hungary. [Kovacs, Attila] Hosp Hungarian State Railways, Dept Rheumatol, Szeged, Hungary. [Vetro, Agnes] Univ Szeged, Dept Childrens Psychiat, H-6720 Szeged, Hungary. RP Laszlo, A (reprint author), Univ Szeged, Dept Pediat, A Szent Gyorgyi Med Ctr, Koranyi Fasor 14-15, H-6720 Szeged, Hungary. 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Szle. PD JAN 30 PY 2013 VL 66 IS 1-2 BP 23 EP 28 PG 6 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA 086FL UT WOS:000314669400005 PM 23607226 ER PT J AU Kondapalli, KC Hack, A Schushan, M Ben-Tal, N Rao, R AF Kondapalli, Kalyan C. Hack, Anniesha Schushan, Maya Ben-Tal, Nir Rao, Rajini TI Functional Evaluation of Autism Associated Mutations in Slc9A9 (NHE9) SO BIOPHYSICAL JOURNAL LA English DT Meeting Abstract CT 57th Annual Meeting of the Biophysical-Society CY FEB 02-06, 2013 CL Philadelphia, PA SP Biophys Soc C1 [Kondapalli, Kalyan C.; Hack, Anniesha; Rao, Rajini] Johns Hopkins Univ, Baltimore, MD USA. [Schushan, Maya; Ben-Tal, Nir] Tel Aviv Univ, IL-69978 Tel Aviv, Israel. NR 0 TC 0 Z9 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0006-3495 J9 BIOPHYS J JI Biophys. J. PD JAN 29 PY 2013 VL 104 IS 2 SU 1 BP 22A EP 22A PG 1 WC Biophysics SC Biophysics GA 105MI UT WOS:000316074300118 ER PT J AU Limpitikul, W Johny, MB Yue, DT AF Limpitikul, Worawan Johny, Manu B. Yue, David T. TI Autism-Associated Point Mutation in Ca(V)1.3 Calcium Channels alters their Regulation by Ca2+ SO BIOPHYSICAL JOURNAL LA English DT Meeting Abstract CT 57th Annual Meeting of the Biophysical-Society CY FEB 02-06, 2013 CL Philadelphia, PA SP Biophys Soc C1 [Limpitikul, Worawan; Johny, Manu B.; Yue, David T.] Johns Hopkins Univ, Sch Med, Baltimore, MD USA. NR 0 TC 0 Z9 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0006-3495 J9 BIOPHYS J JI Biophys. J. PD JAN 29 PY 2013 VL 104 IS 2 SU 1 BP 459A EP 459A PG 1 WC Biophysics SC Biophysics GA 105MI UT WOS:000316074304329 ER PT J AU Lin, HC Gean, PW Wang, CC Chan, YH Chen, PS AF Lin, Hui-Ching Gean, Po-Wu Wang, Chao-Chuan Chan, Yun-Han Chen, Po See TI The Amygdala Excitatory/Inhibitory Balance in a Valproate-Induced Rat Autism Model SO PLOS ONE LA English DT Article ID PRENATAL EXPOSURE; ANIMAL-MODEL; LATERAL AMYGDALA; SOCIAL ANXIETY; SYNAPTIC PLASTICITY; SPECTRUM DISORDERS; NMDA RECEPTORS; FEAR MEMORY; IN-VIVO; BRAIN AB The amygdala is an important structure contributing to socio-emotional behavior. However, the role of the amygdala in autism remains inconclusive. In this study, we used the 28-35 days valproate (VPA)-induced rat model of autism to observe the autistic phenotypes and evaluate their synaptic characteristics in the lateral nucleus (LA) of the amygdala. The VPA-treated offspring demonstrated less social interaction, increased anxiety, enhanced fear learning and impaired fear memory extinction. Slice preparation and electrophysiological recordings of the amygdala showed significantly enhanced long-term potentiation (LTP) while stimulating the thalamic-amygdala pathway of the LA. In addition, the pair pulse facilitation (PPF) at 30- and 60-ms intervals decreased significantly. Whole-cell recordings of the LA pyramidal neurons showed an increased miniature excitatory postsynaptic current (EPSC) frequency and amplitude. The relative contributions of the AMPA receptor and NMDA receptor to the EPSCs did not differ significantly between groups. These results suggested that the enhancement of the presynaptic efficiency of excitatory synaptic transmission might be associated with hyperexcitibility and enhanced LTP in LA pyramidal neurons. Disruption of the synaptic excitatory/inhibitory (E/I) balance in the LA of VPA-treated rats might play certain roles in the development of behaviors in the rat that may be relevant to autism. Further experiments to demonstrate the direct link are warranted. C1 [Lin, Hui-Ching] Natl Yang Ming Univ, Sch Med, Dept & Inst Physiol, Taipei 112, Taiwan. [Lin, Hui-Ching] Natl Yang Ming Univ, Brain Res Ctr, Taipei 112, Taiwan. [Gean, Po-Wu; Chan, Yun-Han] Natl Cheng Kung Univ, Coll Med, Dept Pharmacol, Tainan 70101, Taiwan. [Wang, Chao-Chuan] Kaohsiung Med Univ, Coll Med, Dept Anat, Kaohsiung, Taiwan. [Chan, Yun-Han] Ctr Drug Evaluat, Taipei, Taiwan. [Chen, Po See] Natl Cheng Kung Univ, Coll Med, Natl Cheng Kung Univ Hosp, Dept Psychiat, Tainan 70101, Taiwan. [Chen, Po See] Natl Cheng Kung Univ, Addict Res Ctr, Tainan 70101, Taiwan. RP Chen, PS (reprint author), Natl Cheng Kung Univ, Coll Med, Natl Cheng Kung Univ Hosp, Dept Psychiat, Tainan 70101, Taiwan. EM chenps@mail.ncku.edu.tw FU National Science Council, Taiwan [NSC 99-2628-B-006-013, NSC 96-2314-B-006-056, NSC 100-2320-B-010-033-MY2]; Aim for the Top University Plan from the National Cheng Kung University; Aim for the Top University Plan from the National Yang-Ming University; National Cheng Kung Hospital [NCKUH-10005008] FX Funding provided by the National Science Council, Taiwan (http://web1.nsc.gov.tw/mp.aspx?mp=7; NSC 99-2628-B-006-013, NSC 96-2314-B-006-056, NSC 100-2320-B-010-033-MY2); Aim for the Top University Plan from the National Cheng Kung University (http://top-en.ncku.edu.tw/bin/home.php); Aim for the Top University Plan from the National Yang-Ming University (http://www.ym.edu.tw/top/eng/index.html); and National Cheng Kung Hospital (http://www.hosp.ncku.edu.tw/nckm/english/HomeStyle.aspx?Type=11&Content Page=0; NCKUH-10005008). 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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Psychol. PD JAN 28 PY 2013 VL 4 AR 19 DI 10.3389/fpsyg.2013.00019 PG 3 WC Psychology, Multidisciplinary SC Psychology GA AA0IB UT WOS:000330777700001 PM 23372559 ER PT J AU Napoli, E Wong, S Giulivi, C AF Napoli, Eleonora Wong, Sarah Giulivi, Cecilia TI Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism SO MOLECULAR AUTISM LA English DT Article DE Autism; Mitochondria; Mitochondrial DNA; Oxidative damage; Bioenergetics ID MULTIPLE MTDNA DELETIONS; GLUTATHIONE REDOX IMBALANCE; LIFE IMMUNE CHALLENGE; OXIDATIVE DAMAGE; HUMAN-CELLS; MAMMALIAN-CELLS; GENOME DATABASE; COPY NUMBER; BP DELETION; TISSUES AB Background: The mitochondrial genome (mtDNA) is particularly susceptible to damage mediated by reactive oxygen species (ROS). Although elevated ROS production and elevated biomarkers of oxidative stress have been found in tissues from children with autism spectrum disorders, evidence for damage to mtDNA is lacking. Findings: mtDNA deletions were evaluated in peripheral blood monocytic cells (PBMC) isolated from 2-5 year old children with full autism (AU; n = 67), and typically developing children (TD; n = 46) and their parents enrolled in the CHildhood Autism Risk from Genes and Environment study (CHARGE) at University of California Davis. Sequence variants were evaluated in mtDNA segments from AU and TD children (n = 10; each) and their mothers representing 31.2% coverage of the entire human mitochondrial genome. Increased mtDNA damage in AU children was evidenced by (i) higher frequency of mtDNA deletions (2-fold), (ii) higher number of GC. AT transitions (2.4-fold), being GC preferred sites for oxidative damage, and (iii) higher frequency of G, C, T. A transitions (1.6-fold) suggesting a higher incidence of polymerase gamma incorporating mainly A at bypassed apurinic/ apyrimidinic sites, probably originated from oxidative stress. The last two outcomes were identical to their mothers suggesting the inheritance of a template consistent with increased oxidative damage, whereas the frequency of mtDNA deletions in AU children was similar to that of their fathers. Conclusions: These results suggest that a combination of genetic and epigenetic factors, taking place during perinatal periods, results in a mtDNA template in children with autism similar to that expected for older individuals. C1 [Napoli, Eleonora; Wong, Sarah; Giulivi, Cecilia] Univ Calif Davis, Dept Mol Biosci, Davis, CA 95616 USA. [Giulivi, Cecilia] Univ Calif Davis, Med Invest Neurodev Disorders MIND Inst, Davis, CA 95616 USA. RP Giulivi, C (reprint author), Univ Calif Davis, Dept Mol Biosci, 1 Shields Ave,1120 Haring Hall, Davis, CA 95616 USA. EM cgiulivi@ucdavis.edu FU University of California Davis [2444]; Autism Speaks [R01-ES011269,, NIEHS R01-ES015359, NIEHS R01-ES020392] FX We wish to express our gratitude to the children and their families who participated in this study; Ms Alicja Omanska-Klusek for technical assistance; Dr Flora Tassone for providing all samples utilized in this study; Dr Irva HertzPicciotto for providing diagnostic, sociodemographic, and comorbidity data, and Dr Isaac Pessah for providing input at early stages of the study. This study was performed under the funding from the 2008 M. I. N. D. Institute Pilot Research Grant, University of California Davis, # 2444 Autism Speaks, and NIEHS R01-ES011269, NIEHS R01-ES015359 and NIEHS R01-ES020392. The abovementioned funding agencies were not responsible for the design and conduct of the study, collection, management, analysis or interpretation of the data, or the preparation, review, or approval of this manuscript. 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Shankardass, Aditi Als, Heidelise TI The frequency modulated auditory evoked response (FMAER), a technical advance for study of childhood language disorders: cortical source localization and selected case studies SO BMC NEUROLOGY LA English DT Article DE Frequency modulation; Auditory evoked response; FMAER; Cortical; Source analysis; Language disorder; Landau-Kleffner syndrome; Autism; Children; Epilepsy surgery ID DEVELOPMENTAL DYSPHASIA; PRINCIPAL COMPONENTS; CHILDREN; TONES; STIMULATION; IMPAIRMENT; RESOLUTION; DEFICITS; APHASIA; EEG AB Background: Language comprehension requires decoding of complex, rapidly changing speech streams. Detecting changes of frequency modulation (FM) within speech is hypothesized as essential for accurate phoneme detection, and thus, for spoken word comprehension. Despite past demonstration of FM auditory evoked response (FMAER) utility in language disorder investigations, it is seldom utilized clinically. This report's purpose is to facilitate clinical use by explaining analytic pitfalls, demonstrating sites of cortical origin, and illustrating potential utility. Results: FMAERs collected from children with language disorders, including Developmental Dysphasia, Landau-Kleffner syndrome (LKS), and autism spectrum disorder (ASD) and also normal controls - utilizing multi-channel reference-free recordings assisted by discrete source analysis - provided demonstratrions of cortical origin and examples of clinical utility. Recordings from inpatient epileptics with indwelling cortical electrodes provided direct assessment of FMAER origin. The FMAER is shown to normally arise from bilateral posterior superior temporal gyri and immediate temporal lobe surround. Childhood language disorders associated with prominent receptive deficits demonstrate absent left or bilateral FMAER temporal lobe responses. When receptive language is spared, the FMAER may remain present bilaterally. Analyses based upon mastoid or ear reference electrodes are shown to result in erroneous conclusions. Serial FMAER studies may dynamically track status of underlying language processing in LKS. FMAERs in ASD with language impairment may be normal or abnormal. Cortical FMAERs can locate language cortex when conventional cortical stimulation does not. Conclusion: The FMAER measures the processing by the superior temporal gyri and adjacent cortex of rapid frequency modulation within an auditory stream. Clinical disorders associated with receptive deficits are shown to demonstrate absent left or bilateral responses. Serial FMAERs may be useful for tracking language change in LKS. Cortical FMAERs may augment invasive cortical language testing in epilepsy surgical patients. The FMAER may be normal in ASD and other language disorders when pathology spares the superior temporal gyrus and surround but presumably involves other brain regions. Ear/mastoid reference electrodes should be avoided and multichannel, reference free recordings utilized. Source analysis may assist in better understanding of complex FMAER findings. C1 [Duffy, Frank H.; Rotenberg, Alexander] Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA. [Duffy, Frank H.; Rotenberg, Alexander; Madsen, Joseph R.; Shankardass, Aditi; Als, Heidelise] Harvard Univ, Sch Med, Boston, MA 02115 USA. [Eksioglu, Yaman Z.] Golisano Childrens Hosp, Syracuse, NY 13202 USA. [Eksioglu, Yaman Z.] Upstate Med Univ, Syracuse, NY 13202 USA. [Madsen, Joseph R.] Boston Childrens Hosp, Dept Neurosurg, Boston, MA 02115 USA. [Shankardass, Aditi; Als, Heidelise] Boston Childrens Hosp, Dept Psychiat Psychol, Boston, MA 02115 USA. RP Duffy, FH (reprint author), Boston Childrens Hosp, Dept Neurol, 300 Longwood Ave, Boston, MA 02115 USA. EM fhd@sover.net FU National Institutes of Health/National Institute of Child Health and Human Development [R01HD047730]; Intellectual and Developmental Disabilities Research Center (IDDRC) [P30HD018655]; Tommy Fuss Fund FX The authors thank the research subjects and the patients, as well as their families for their participation in the studies performed. They further thank registered EEG technologists Herman Edwards, Jack Connolly and Sheryl Manganaro for the quality of their data acquisition and for their consistent efforts over the years. The authors thank Joseph Heydrich-Gonzalez, MD for making available several of the neurotypical control subjects in the 14 to 20 year old population. The professionals acknowledged performed their roles as part of their regular clinical and research obligations and were not additionally compensated for their contribution. This work was supported in part by National Institutes of Health/National Institute of Child Health and Human Development grant R01HD047730 to Heidelise Als, PhD and the Intellectual and Developmental Disabilities Research Center (IDDRC) grant P30HD018655 to Scott. Pomeroy, MD, PhD, Boston Children's Hospital and Harvard Medical School. The authors furthermore acknowledge support from the Tommy Fuss Fund to Joseph Gonzalez-Heydrich, MD, and thank the Chairmen of Neurology (Scott Pomeroy), Neurosurgery (Alan R. Cohen), and Psychiatry (David R. DeMaso) for their continuing support of these research efforts. CR American Clinical Neurophysiology Society, 2006, J CLIN NEUROPHYSIOL, V23, P107 BARTELS PH, 1981, ANAL QUANT CYTOL, V3, P83 COOLEY W. 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PD JAN 25 PY 2013 VL 13 AR 12 DI 10.1186/1471-2377-13-12 PG 22 WC Clinical Neurology SC Neurosciences & Neurology GA 095MV UT WOS:000315339500001 PM 23351174 ER PT J AU Kikuchi, M Yoshimura, Y Shitamichi, K Ueno, S Hirosawa, T Munesue, T Ono, Y Tsubokawa, T Haruta, Y Oi, M Niida, Y Remijn, GB Takahashi, T Suzuki, M Higashida, H Minabe, Y AF Kikuchi, Mitsuru Yoshimura, Yuko Shitamichi, Kiyomi Ueno, Sanae Hirosawa, Tetsu Munesue, Toshio Ono, Yasuki Tsubokawa, Tsunehisa Haruta, Yasuhiro Oi, Manabu Niida, Yo Remijn, Gerard B. Takahashi, Tsutomu Suzuki, Michio Higashida, Haruhiro Minabe, Yoshio TI A custom magnetoencephalography device reveals brain connectivity and high reading/decoding ability in children with autism SO SCIENTIFIC REPORTS LA English DT Article ID 2-TO 5-YEAR-OLD CHILDREN; HIGH-FUNCTIONING AUTISM; WORKING-MEMORY TASK; GAMMA-BAND ACTIVITY; SPECTRUM DISORDERS; VISUAL-CORTEX; SENTENCE COMPREHENSION; LANGUAGE PERFORMANCE; HIGH-FREQUENCY; FMRI AB A subset of individuals with autism spectrum disorder (ASD) performs more proficiently on certain visual tasks than may be predicted by their general cognitive performances. However, in younger children with ASD (aged 5 to 7), preserved ability in these tasks and the neurophysiological correlates of their ability are not well documented. In the present study, we used a custom child-sized magnetoencephalography system and demonstrated that preserved ability in the visual reasoning task was associated with rightward lateralisation of the neurophysiological connectivity between the parietal and temporal regions in children with ASD. In addition, we demonstrated that higher reading/decoding ability was also associated with the same lateralisation in children with ASD. These neurophysiological correlates of visual tasks are considerably different from those that are observed in typically developing children. These findings indicate that children with ASD have inherently different neural pathways that contribute to their relatively preserved ability in visual tasks. C1 [Kikuchi, Mitsuru; Yoshimura, Yuko; Munesue, Toshio; Oi, Manabu; Niida, Yo; Higashida, Haruhiro; Minabe, Yoshio] Kanazawa Univ, Res Ctr Child Mental Dev, Kanazawa, Ishikawa 9208640, Japan. [Kikuchi, Mitsuru; Shitamichi, Kiyomi; Ueno, Sanae; Hirosawa, Tetsu; Munesue, Toshio; Ono, Yasuki; Minabe, Yoshio] Kanazawa Univ, Grad Sch Med Sci, Dept Psychiat, Kanazawa, Ishikawa 9208640, Japan. [Kikuchi, Mitsuru; Shitamichi, Kiyomi; Ueno, Sanae; Hirosawa, Tetsu; Munesue, Toshio; Ono, Yasuki; Minabe, Yoshio] Kanazawa Univ, Grad Sch Med Sci, Dept Neurobiol, Kanazawa, Ishikawa 9208640, Japan. [Kikuchi, Mitsuru; Yoshimura, Yuko; Munesue, Toshio; Oi, Manabu; Higashida, Haruhiro; Minabe, Yoshio] Chiba Univ, Hamamatsu Univ Sch Med, Dept Child Dev, United Grad Sch Child Dev,Osaka Univ,Kanazawa Uni, Kanazawa, Ishikawa 9208640, Japan. [Kikuchi, Mitsuru; Yoshimura, Yuko; Munesue, Toshio; Oi, Manabu; Higashida, Haruhiro; Minabe, Yoshio] Univ Fukui, Kanazawa, Ishikawa 9208640, Japan. [Remijn, Gerard B.] Kyushu Univ, Int Educ Ctr, Fukuoka 8158545, Japan. [Tsubokawa, Tsunehisa] Kanazawa Univ, Grad Sch Med Sci, Dept Anaesthesiol, Kanazawa, Ishikawa 9208640, Japan. [Haruta, Yasuhiro] Yokogawa Elect Corp, Dept MEG, Kanazawa, Ishikawa 9200177, Japan. [Takahashi, Tsutomu; Suzuki, Michio] Toyama Univ, Sch Med, Dept Neuropsychiat, Toyama 9300194, Japan. RP Kikuchi, M (reprint author), Kanazawa Univ, Res Ctr Child Mental Dev, Kanazawa, Ishikawa 9208640, Japan. EM mitsuru@zc4.so-net.ne.jp FU Hokuriku Innovation Cluster for Health Science (MEXT Program for Fostering Regional Innovation); Strategic Research Program for Brain Sciences from MEXT, Japan FX This study was supported by the Hokuriku Innovation Cluster for Health Science (MEXT Program for Fostering Regional Innovation) and by the Strategic Research Program for Brain Sciences from MEXT, Japan. The authors declare that they have no conflicts of interest. 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Egan, Ryan D. Minshew, Nancy J. Behrmann, Marlene Heeger, David J. TI Normal binocular rivalry in autism: Implications for the excitation/inhibition imbalance hypothesis SO VISION RESEARCH LA English DT Article DE Binocular rivalry; Psychophysics; Computational model; Autism ID VISUAL-PERCEPTION; TRAVELING-WAVES; CHILDREN; EPILEPSY; CORTEX; MODEL; HYPERSENSITIVITY; ABNORMALITIES; COMMUNICATION; INDIVIDUALS AB Autism is characterized by disruption in multiple dimensions of perception, emotion, language and social cognition. Many hypotheses for the underlying neurophysiological basis have been proposed. Among these is the excitation/inhibition (E/I) imbalance hypothesis, which states that levels of cortical excitation and inhibition are disrupted in autism. We tested this theory in the visual system, because vision is one of the better understood systems in neuroscience, and because the Ell imbalance theory has been proposed to explain hypersensitivity to sensory stimuli in autism. We conducted two experiments on binocular rivalry, a well-studied psychophysical phenomenon that depends critically on excitation and inhibition levels in cortex. Using a computational model, we made specific predictions about how imbalances in excitation and inhibition levels would affect perception during two aspects of binocular rivalry: mixed perception (Experiment 1) and traveling waves (Experiment 2). We found no significant differences in either of these phenomena between high-functioning adults with autism and controls, and no evidence for a relationship between these measurements and the severity of autism. These results do not conclusively rule out an excitation/inhibition imbalance in the visual system of those with autism, but they suggest that such an imbalance, if it exists, is likely to be small in magnitude. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Said, Christopher P.; Heeger, David J.] NYU, Ctr Neural Sci, New York, NY 10003 USA. [Said, Christopher P.; Heeger, David J.] NYU, Dept Psychol, New York, NY 10003 USA. [Egan, Ryan D.; Behrmann, Marlene] Carnegie Mellon Univ, Dept Psychol, Pittsburgh, PA 15213 USA. [Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15260 USA. [Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Neurol, Pittsburgh, PA 15260 USA. RP Said, CP (reprint author), 21 Washington Sq N,Apt 4R, New York, NY 10011 USA. EM chris.said@gmail.com FU Simons Foundation Autism Research Initiative [177638]; NIH/NICHD University of Pittsburgh Autism Center of Excellence [HD055748] FX This research was funded by a grant from the Simons Foundation Autism Research Initiative (177638) awarded to David Heeger and Marlene Behrmann and by the NIH/NICHD University of Pittsburgh Autism Center of Excellence (HD055748). We thank Caroline Elizabeth Robertson and Chris Baker for their comments on an earlier version of this manuscript. 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Williams, Richard TI Evidence review and clinical guidance for the use of ziprasidone in Canada SO ANNALS OF GENERAL PSYCHIATRY LA English DT Review DE Ziprasidone; Expert consensus; Schizophrenia; Bipolar disorder; Depression; Anxiety; Dosing; Off-label ID MAJOR DEPRESSIVE DISORDER; NEUROLEPTIC MALIGNANT SYNDROME; INDUCED WEIGHT-GAIN; LONG-TERM TREATMENT; BIPOLAR-I DISORDER; ATYPICAL ANTIPSYCHOTIC MEDICATION; PSYCHIATRY WFSBP GUIDELINES; INDUCED TARDIVE-DYSKINESIA; AUTISM SPECTRUM DISORDERS; ANXIETY TREATMENTS CANMAT AB While indicated for schizophrenia and acute mania, ziprasidone's evidence base and use in clinical practice extends beyond these regulatory approvals. We, an invited panel of experts led by a working group of 3, critically examined the evidence and our collective experience regarding the effectiveness, tolerability and safety of ziprasidone across its clinical uses. There was no opportunity for manufacturer input into the content of the review. As anticipated, ziprasidone was found to be effective for its indicated uses, although its utility in mania and mixed states lacked comparative data. Beyond these uses, the available data were either unimpressive or were lacking. An attractive characteristic is its neutral effect on weight thereby providing patients with a non-obesogenic long-term treatment option. Key challenges in practice include the need for dosing on a full stomach and managing its early onset adverse effect of restlessness. Addressing these issues are critical to its long-term success C1 [Gardner, David M.; Murphy, Andrea L.; Kutcher, Stan; Carandang, Carlo; Milliken, Heather; O'Donovan, Claire] Dalhousie Univ, Dept Psychiat, Halifax, NS, Canada. [Beaulieu, Serge; Malla, Ashok] McGill Univ, Dept Psychiat, Montreal, PQ, Canada. [Labelle, Alain] Univ Ottawa, Dept Psychiat, Ottawa, ON K1N 6N5, Canada. [Lalonde, Pierre] Hop Louis H Lafontaine, Ctr Rech Fernand Seguin, Montreal, PQ, Canada. [Schaffer, Ayal; Soni, Jorge; Taylor, Valerie H.] Univ Toronto, Dept Psychiat, Toronto, ON, Canada. [Williams, Richard] Univ British Columbia, Dept Psychiat, Vancouver, BC, Canada. RP Gardner, DM (reprint author), Dalhousie Univ, Dept Psychiat, Halifax, NS, Canada. EM david.gardner@dal.ca FU Pfizer; Astra Zeneca; Biovail; BMS; Eli Lilly; Janssen-Ortho; Lundbeck; Merck-Frosst; Novartis; Servier; Pfizer Canada FX Dr. David Gardner has been involved with the advisory board for JanssenOrtho and has received education grant funding from Pfizer for this project. Dr. Serge Beaulieu has been a speaker for Astra Zeneca, Biovail, Bristol Myers Squibb (BMS), Eli Lilly, GlaxoSmithKline (GSK), Janssen-Ortho, Lundbeck, Organon, Oryx, Pfizer, Wyeth. He has acted on the advisory board and/or as a consultant for Astra Zeneca, BMS, Eli Lilly, GSK, Janssen-Ortho, Lundbeck, Oryx, Otsuka, Schering-Plough Merck, Pfizer. He has also received research support from Astra Zeneca, Biovail, BMS, Eli Lilly, Janssen-Ortho, Lundbeck, Merck-Frosst, Novartis, Pfizer, and Servier.This consensus project was supported by a grant from Pfizer Canada who is the manufacturer of ziprasidone. Other than providing funding for the consensus review Pfizer had no involvement in the project. No employee of Pfizer saw any content of the manuscript prior to its publications. We would like to thank Dave Carter of Multidimensional Healthcare as well as Christina Clark and Kathryn Landry for their logistical and research support throughout the project. 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CA NHLBI Exome Sequencing Project TI Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders SO NEURON LA English DT Article ID COPY-NUMBER VARIATION; DE-NOVO MUTATIONS; CANDIDATE GENES; SEQUENCING DATA; VARIANTS; GENOME; EXOME; ASSOCIATION; FAMILIES; BRAIN AB To characterize the role of rare complete human knockouts in autism spectrum disorders (ASDs), we identify genes with homozygous or compound heterozygous loss-of-function (LoF) variants (defined as nonsense and essential splice sites) from exome sequencing of 933 cases and 869 controls. We identify a 2-fold increase in complete knockouts of autosomal genes with low rates of LoF variation (<= 5% frequency) in cases and estimate a 3% contribution to ASD risk by these events, confirming this observation in an independent set of 563 probands and 4,605 controls. Outside the pseudoautosomal regions on the X chromosome, we similarly observe a significant 1.5-fold increase in rare hemizygous knockouts in males, contributing to another 2% of ASDs in males. Taken together, these results provide compelling evidence that rare autosomal and X chromosome complete gene knockouts are important inherited risk factors for ASD. C1 [Lim, Elaine T.; MacArthur, Daniel G.; Neale, Benjamin M.; Kirby, Andrew; Ruderfer, Douglas M.; Fromer, Menachem; Lek, Monkol; Flannick, Jason; Ripke, Stephan; Altshuler, David M.; Purcell, Shaun M.; Daly, Mark J.] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA. [Flannick, Jason; Altshuler, David M.] Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA. [Ruderfer, Douglas M.; Fromer, Menachem; Purcell, Shaun M.] Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA. [Lim, Elaine T.; Raychaudhuri, Soumya; Stevens, Christine; MacArthur, Daniel G.; Neale, Benjamin M.; Kirby, Andrew; Ruderfer, Douglas M.; Fromer, Menachem; Lek, Monkol; Flannick, Jason; Ripke, Stephan; Gabriel, Stacey B.; dePristo, Mark; Altshuler, David M.; Purcell, Shaun M.; Daly, Mark J.] Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA. [Lim, Elaine T.; Neale, Benjamin M.; Ruderfer, Douglas M.; Fromer, Menachem; Ripke, Stephan; Purcell, Shaun M.; Daly, Mark J.] Broad Inst, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA. [Lim, Elaine T.; Raychaudhuri, Soumya; MacArthur, Daniel G.; Neale, Benjamin M.; Kirby, Andrew; Ruderfer, Douglas M.; Fromer, Menachem; Lek, Monkol; Flannick, Jason; Altshuler, David M.; Purcell, Shaun M.; Daly, Mark J.] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA. [Lim, Elaine T.; Raychaudhuri, Soumya; MacArthur, Daniel G.; Neale, Benjamin M.; Kirby, Andrew; Ruderfer, Douglas M.; Fromer, Menachem; Lek, Monkol; Flannick, Jason; Altshuler, David M.; Purcell, Shaun M.; Daly, Mark J.] Harvard Univ, Sch Med, Dept Med, Boston, MA 02115 USA. [Lim, Elaine T.] Harvard Univ, Sch Med, Program Genet & Genom Biol & Biomed Sci, Boston, MA 02115 USA. [Ruderfer, Douglas M.; Fromer, Menachem; Purcell, Shaun M.] Harvard Univ, Sch Med, Dept Psychiat, Boston, MA 02115 USA. [Raychaudhuri, Soumya] Brigham & Womens Hosp, Div Immunol Allergy & Rheumatol, Boston, MA 02115 USA. [Sanders, Stephan J.; State, Matthew W.] Yale Univ, Dept Psychiat, Sch Med, New Haven, CT 06520 USA. [Sanders, Stephan J.; State, Matthew W.] Yale Univ, Dept Genet, Sch Med, New Haven, CT 06520 USA. [Sabo, Aniko; Nagaswamy, Uma; Muzny, Donna; Reid, Jeffrey G.; Hawes, Alicia; Newsham, Irene; Wu, Yuanqing; Lewis, Lora; Dinh, Huyen; Gross, Shannon; Boerwinkle, Eric; Gibbs, Richard A.] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA. [Ruderfer, Douglas M.; Fromer, Menachem; Purcell, Shaun M.] Mt Sinai Sch Med, Div Psychiat Genom, New York, NY 10029 USA. [Buxbaum, Joseph D.] Mt Sinai Sch Med, Seaver Autism Ctr Res & Treatment, New York, NY 10029 USA. [Ruderfer, Douglas M.; Fromer, Menachem; Purcell, Shaun M.; Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Psychiat, New York, NY 10029 USA. [Ruderfer, Douglas M.; Fromer, Menachem; Purcell, Shaun M.; Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY 10029 USA. [Buxbaum, Joseph D.] Mt Sinai Sch Med, Dept Neurosci, New York, NY 10029 USA. [Buxbaum, Joseph D.] Mt Sinai Sch Med, Friedman Brain Inst, New York, NY 10029 USA. [Liu, Li; Roeder, Kathryn] Carnegie Mellon Univ, Dept Stat, Pittsburgh, PA 15213 USA. [Liu, Li; Roeder, Kathryn] Carnegie Mellon Univ, Lane Ctr Computat Biol, Pittsburgh, PA 15213 USA. [Wang, Li-San; Lin, Chiao-Feng; Valladares, Otto] Univ Penn, Penn Ctr Bioinformat, Philadelphia, PA 19104 USA. [Schellenberg, Gerard D.] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA. [Boerwinkle, Eric] Univ Texas Hlth Sci Ctr Houston, Human Genet Ctr, Houston, TX 77030 USA. [Cook, Edwin H.] Univ Illinois, Dept Psychiat, Chicago, IL 60612 USA. [Sutcliffe, James S.] Vanderbilt Univ, Vanderbilt Brain Inst, Dept Mol Physiol & Biophys, Nashville, TN 37232 USA. [Sutcliffe, James S.] Vanderbilt Univ, Vanderbilt Brain Inst, Dept Psychiat, Nashville, TN 37232 USA. [Devlin, Bernie] Univ Pittsburgh, Dept Psychiat, Sch Med, Pittsburgh, PA 15260 USA. RP Daly, MJ (reprint author), Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA. EM mjdaly@atgu.mgh.harvard.edu RI Altshuler, David/A-4476-2009; Sutcliffe, James/C-1348-2012; Liu, Li/G-1897-2015 OI Altshuler, David/0000-0002-7250-4107; Sutcliffe, James/0000-0001-5200-6007; FU National Institute of Mental Health (NIMH) repository [U24MH068457]; Autism Genetic Resource Exchange (AGRE) Consortium [1U24MH081810]; Autism Speaks; Simons Foundation; Autism Consortium; NIH [R01MH089208, R01MH089025, R01MH089004, R01MH089175, R01MH089482, P50HD055751, R01MH057881, R01MH061009]; Lung GO Sequencing Project [HL-102923]; WHI Sequencing Project [HL-102924]; Broad GO Sequencing Project [HL-102925]; Seattle GO Sequencing Project [HL-102926]; Heart GO Sequencing Project [HL-103010]; [U54 HG003273]; [U54 HG003067] FX We gratefully acknowledge the following resources and families who contributed to them: the National Institute of Mental Health (NIMH) repository (U24MH068457); Autism Genetic Resource Exchange (AGRE) Consortium, a program of Autism Speaks (1U24MH081810 to Clara M. Lajonchere); The Autism Simplex Collection (TASC) (grant from Autism Speaks); Simons Foundation Autism Research Initiative (SFARI) Simplex Collection (grant from the Simons Foundation); The Autism Consortium (grant from the Autism Consortium). For full citation of resources, please see Supplemental Information. This work was directly supported by NIH grants R01MH089208 (M.J.D.), R01MH089025 (J.D.B.), R01MH089004 (G.D.S.), R01MH089175 (R.A.G.), and R01MH089482 (J.S.S.) and supported in part by NIH grants P50HD055751 (E.H.C.), R01MH057881 (S.D.), and R01MH061009 (J.S.S.). We acknowledge partial support from U54 HG003273 (R.A.G.) and U54 HG003067 (E. Lander). We thank Thomas Lehner (NIMH), Adam Felsenfeld (NHGRI), and Patrick Bender (NIMH) for their support and contribution to the project. E.B., J.D.B., S.D., M.J.D., R.A.G., K.R., A.S., G.D.S., and J.S.S. are lead investigators in the ARRA Autism Sequencing Collaboration (AASC). We would also like to thank the NHLBI GO Exome Sequencing Project and its ongoing studies that produced and provided exome variant calls for comparison: the Lung GO Sequencing Project (HL-102923), the WHI Sequencing Project (HL-102924), the Broad GO Sequencing Project (HL-102925), the Seattle GO Sequencing Project (HL-102926), and the Heart GO Sequencing Project (HL-103010). 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TI Using Whole-Exome Sequencing to Identify Inherited Causes of Autism SO NEURON LA English DT Article ID RHIZOMELIC CHONDRODYSPLASIA PUNCTATA; DE-NOVO MUTATIONS; GLYCINE CLEAVAGE SYSTEM; COPY-NUMBER VARIATION; COHEN-SYNDROME; SPECTRUM DISORDERS; NONKETOTIC HYPERGLYCINEMIA; CLINICAL VARIABILITY; CRYSTAL-STRUCTURE; PTS2 RECEPTOR AB Despite significant heritability of autism spectrum disorders (ASDs), their extreme genetic heterogeneity has proven challenging for gene discovery. Studies of primarily simplex families have implicated de novo copy number changes and point mutations, but are not optimally designed to identify inherited risk alleles. We apply whole-exome sequencing (WES) to ASD families enriched for inherited causes due to consanguinity and find familial ASD associated with biallelic mutations in disease genes (AMT, PEX7, SYNE1, VPS13B, PAH, and POMGNT1). At least some of these genes show biallelic mutations in nonconsanguineous families as well. These mutations are often only partially disabling or present atypically, with patients lacking diagnostic features of the Mendelian disorders with which these genes are classically associated. Our study shows the utility of WES for identifying specific genetic conditions not clinically suspected and the importance of partial loss of gene function in ASDs. C1 [Yu, Timothy W.; Chahrour, Maria H.; Coulter, Michael E.; Schmitz-Abe, Klaus; Mochida, Ganesh H.; Partlow, Jennifer N.; Sunu, Christine M.; Felie, Jillian M.; Rodriguez, Jacqueline; Hill, R. Sean; Al-Saffar, Muna; Markianos, Kyriacos; Walsh, Christopher A.] Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA. [Yu, Timothy W.; Chahrour, Maria H.; Coulter, Michael E.; Schmitz-Abe, Klaus; Mochida, Ganesh H.; Partlow, Jennifer N.; Sunu, Christine M.; Felie, Jillian M.; Rodriguez, Jacqueline; Hill, R. Sean; Al-Saffar, Muna; Markianos, Kyriacos; Walsh, Christopher A.] Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA. [Yu, Timothy W.; Chahrour, Maria H.; Coulter, Michael E.; Mochida, Ganesh H.; Partlow, Jennifer N.; Sunu, Christine M.; Felie, Jillian M.; Rodriguez, Jacqueline; Hill, R. Sean; Walsh, Christopher A.] Boston Childrens Hosp, Howard Hughes Med Inst, Boston, MA 02115 USA. [Yu, Timothy W.; Chahrour, Maria H.; Joseph, Robert M.; Rappaport, Leonard; Morrow, Eric M.; Walsh, Christopher A.] Autism Consortium, Boston, MA 02115 USA. [Yu, Timothy W.; Chahrour, Maria H.; Coulter, Michael E.; Schmitz-Abe, Klaus; D'Gama, Alissa M.; Mochida, Ganesh H.; Nasir, Ramzi H.; Ware, Janice; Hill, R. Sean; LeClair, Elaine; Poduri, Annapurna; Rappaport, Leonard; Markianos, Kyriacos; Walsh, Christopher A.] Harvard Univ, Sch Med, Boston, MA 02115 USA. [Yu, Timothy W.; Mochida, Ganesh H.; Gascon, Generoso G.] Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA. [Yu, Timothy W.; Chahrour, Maria H.; Stevens, Christine R.; Gabriel, Stacey B.; Walsh, Christopher A.] MIT, Broad Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA. [Yu, Timothy W.; Chahrour, Maria H.; Stevens, Christine R.; Gabriel, Stacey B.; Walsh, Christopher A.] Harvard Univ, Cambridge, MA 02142 USA. [Jiralerspong, Sarn; Braverman, Nancy E.] McGill Univ, Montreal Childrens Hosp, Res Inst, Dept Human Genet & Pediat, Montreal, PQ H3H 1P3, Canada. [Okamura-Ikeda, Kazuko; Taniguchi, Hisaaki] Univ Tokushima, Inst Enzyme Res, Tokushima 7708501, Japan. [Ataman, Bulent; Harmin, David A.; Malik, Athar N.; Greenberg, Michael E.] Harvard Univ, Sch Med, Dept Neurobiol, Boston, MA 02115 USA. [Adli, Mazhar] Univ Virginia, Sch Med, Dept Biochem & Mol Genet, Charlottesville, VA 22908 USA. [Lim, Elaine T.] Massachusetts Gen Hosp, Ctr Human Genet Res, Analyt & Translat Genet Unit, Boston, MA 02114 USA. [Sanders, Stephan J.; State, Matthew W.] Yale Univ, Sch Med, Dept Genet, Ctr Human Genet & Genom, New Haven, CT 06510 USA. [Sanders, Stephan J.; State, Matthew W.] Yale Univ, Sch Med, Program Neurogenet, New Haven, CT 06510 USA. [Nasir, Ramzi H.; Ware, Janice; LeClair, Elaine; Rappaport, Leonard] Boston Childrens Hosp, Div Dev Med, Boston, MA 02115 USA. [Joseph, Robert M.] Boston Univ, Sch Med, Dept Anat & Neurobiol, Boston, MA 02118 USA. [Kwan, Benjamin Y.] Univ Western Ontario, Schulich Sch Med & Dent, London, ON N6A 5C1, Canada. [Al-Saffar, Muna; Al-Gazali, Lihadh] United Arab Emirates Univ, Fac Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates. [Mukaddes, Nahit M.; Gascon, Generoso G.] Istanbul Univ, Dept Child Psychiat, Istanbul Fac Med, TR-34452 Istanbul, Turkey. [Hashmi, Asif] Armed Forces Hosp, King Abdulaziz Naval Base, Jubail Ind City 31951, Saudi Arabia. [Balkhy, Soher] King Faisal Specialist Hosp & Res Ctr, Dept Neurosci & Pediat, Jeddah 21499, Saudi Arabia. [Gascon, Generoso G.] Brown Univ, Sch Med, Providence, RI 02912 USA. [Hisama, Fuki M.] Univ Washington, Dept Med, Div Med Genet, Seattle, WA 98195 USA. [Poduri, Annapurna] Boston Childrens Hosp, Dept Neurol, Boston, MA 02115 USA. [Oner, Ozgur] Dr Sami Ulus Childrens Hosp, Dept Child & Adolescent Psychiat, TR-06090 Ankara, Turkey. [Al-Saad, Samira] Kuwait Ctr Autism, Kuwait 73455, Kuwait. [Al-Awadi, Sadika A.; Bastaki, Laila] Kuwait Med Genet Ctr, Kuwait 72458, Kuwait. [Ben-Omran, Tawfeg; Teebi, Ahmad S.] Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, Qatar. [Ben-Omran, Tawfeg; Teebi, Ahmad S.] Weill Cornell Med Coll, Dept Pediat, New York, NY 10065 USA. [Ben-Omran, Tawfeg; Teebi, Ahmad S.] Weill Cornell Med Coll, Dept Med Genet, New York, NY 10065 USA. [Ben-Omran, Tawfeg; Teebi, Ahmad S.] Weill Cornell Med Coll, Dept Pediat, Doha, Qatar. [Ben-Omran, Tawfeg; Teebi, Ahmad S.] Weill Cornell Med Coll, Dept Med Genet, Doha, Qatar. [Eapen, Valsamma] Univ New S Wales, Acad Unit Child Psychiat SW Sydney AUCS, Sydney, NSW 2170, Australia. [Morrow, Eric M.] Brown Univ, Dept Mol Biol Cell Biol & Biochem, Providence, RI 02912 USA. [Morrow, Eric M.] Brown Univ, Dept Psychiat & Human Behav, Providence, RI 02912 USA. RP Yu, TW (reprint author), Boston Childrens Hosp, Dept Med, Div Genet, Boston, MA 02115 USA. EM timothy.yu@childrens.harvard.edu; christopher.walsh@childrens.harvard.edu RI Morrow, Eric/J-2767-2013; Joseph, Roy/D-8530-2015 FU National Institute of Mental Health (NIMH); National Institute of Health (NIH) [T32 NS007484-08, T32 N5007473-12]; Clinical Investigator Training Program (CITP) at Harvard-MIT Health Sciences and Technology; Beth Israel Deaconess Medical Center; Pfizer, Inc.; Merck and Company, Inc.; Nancy Lurie Marks Junior Faculty MeRIT Fellowship; NARSAD; National Institutes of Neurological Disease and Stroke [K23NS069784]; National Institute of General Medical Sciences [T32GM07753]; National Institute of Mental Health [RO1 MH083565, 1RC2MH089952]; NIH [RO1 N5048276]; NIMH [1K23MH080954-01]; Dubai Harvard Foundation for Medical Research; Nancy Lurie Marks Foundation; Simons Foundation; Autism Consortium; Manton Center for Orphan Disease Research; ARRA Grand Opportunities [1RC2MH089952] FX We are grateful to Ed Gilmore, Chiara Manzini, Jenny Yang, and Mark Daly for stimulating discussions and helpful comments on the manuscript and Thomas Lehner for support from the National Institute of Mental Health (NIMH). We are also grateful for the participation of the many families that enrolled in our studies as well as for the collaborative support of the Kuwait Center for Autism and the Dubai Autism Center. T.W.Y. was supported by a National Institute of Health (NIH) T32 grant (T32 NS007484-08), the Clinical Investigator Training Program (CITP) at Harvard-MIT Health Sciences and Technology and Beth Israel Deaconess Medical Center in collaboration with Pfizer, Inc. and Merck and Company, Inc., and the Nancy Lurie Marks Junior Faculty MeRIT Fellowship. M.H.C. was supported by a NIH T32 grant (T32 N5007473-12). G.H.M. was supported by the Young Investigator Award of NARSAD as a NARSAD Lieber Investigator. A.P. was supported by the National Institutes of Neurological Disease and Stroke (K23NS069784). A.M.D. was supported by the National Institute of General Medical Sciences (T32GM07753). Research was supported by grants from the National Institute of Mental Health (RO1 MH083565; 1RC2MH089952) to C.A.W., the NIH to M.E.G. (RO1 N5048276), the NIMH to E.M.M. (1K23MH080954-01), the Dubai Harvard Foundation for Medical Research, the Nancy Lurie Marks Foundation, the Simons Foundation, the Autism Consortium, and the Manton Center for Orphan Disease Research. Sequencing at the Broad Institute was supported by the ARRA Grand Opportunities grant 1RC2MH089952. C.A.W. is an Investigator of the Howard Hughes Medical Institute. T.W.Y. identified AMT, PEX7, and SYNE1 mutations, helped design AMT and PEX7 functional studies, designed and performed exome sequencing analyses for candidate genes, contributed to CNV analyses, and wrote the manuscript. M.H.C. designed and performed exome sequencing analyses for candidate genes, analyzed Sanger validation data and SSC exome data, and wrote the manuscript. M.E.C. helped analyze AU-1700 and AU-3500. S.J. designed PEX7 functional experiments with N.E.B., and S.J. performed them. K.O.-I. designed and performed AMT functional studies and analyzed results. B.A. designed and analyzed RNAseq, ChIPseq, and gPOR experiments. D.A.H. analyzed RNAseq and qPCR experiments. M.A. performed ChIPseq experiments, and A.N.M. analyzed the data. A.M.D. performed RACE experiments for SYNE1. K.S.-A. and K.M. designed the CNV analysis, and KS.-A. compiled the CNV catalog and identified pathogenic CNVs. E.T.L. and S.J.S. helped analyze SSC whole-exome data. G.H.M. performed clinical phenotyping of Middle Eastern families as well as detailed molecular analyses of AU-8600. J.N.P. organized clinical information and patient samples. C.M.S. assisted with exome sequencing analyses and performed follow-up Sanger validation. J.M.F. and J.R. performed follow-up Sanger validation. R.H.N. performed clinical phenotyping of AU-17800. J.W performed clinical phenotyping of AU-17700 and AU-17800. R.M.J. performed clinical phenotyping of AU-1600, AU-10000, and AU-10200. R.S.H. performed genome-wide linkage studies and homozygosity analyses. B.Y.K. assisted with characterization of the AMT mutation. MA-S. organized clinical information and patient samples and referred AU17700 and AU-17800. N.M.M. referred and clinically characterized AU-4200, AU-4400, AU-4900, AU-5700, AU-6100, AU-6200, AU-6300, AU-8600, AU11100, AU-11800, AU-11900, AU-12100, AU-12400, AU-14900, AU-15800, AU-16700, AU-20700, AU-22500, AU-23400, and AU-24300. A.H.referred and characterized AU-3500 and AU-3600. S.B. referred and characterized AU-1700. G.G. referred and characterized AU-1700, AU-3100, AU-4100, and AU-6000. F.M.H. helped characterize AU-17700 and AU-17800. E.L. and A.P. performed clinical phenotyping of AU-1600, AU-10000, and AU10200. 0.0. referred and characterized AU-13100, AU-13400, AU-18000, AU-20300, and AU-22000. S.A.-S., S.A.A.-A., and LB. referred and characterized AU-1600. S.A.-S. referred and characterized AU-9600. T.B.-0. and A.S.T. referred and characterized AU-21100. L.A.-G. and V.E. referred and characterized AU-3200. C.R.S. organized and coordinated exome sequencing. L.R. evaluated the second compound heterozygous PEX7 family. S.B.G. directed exome sequencing. KM. designed the CNV analysis. M.W.S. oversaw SSC exome analyses. M.E.G. oversaw SYNE1 RNAseq and qPCR experiments. H.T. designed and performed AMT functional experiments. N.E.B. designed PEX7 functional experiments, recruited the nonconsanguineous family with two sisters affected by PEX7 mutation, and contributed to interpretation of PEX7 sequencing data. E.M.M. helped characterize AU-1700, performed linkage studies on AU-1600, AU-1700, and AU-3500, helped design the exome sequencing experiment, and contributed to finding the SYNE1 mutation. C.A.W. directed the overall research and wrote the manuscript. 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C1 [Tian, Yao; Li, Tao; Sun, Mingkuan; Wan, Didi; Li, Qian; Li, Peipei; Zhang, Zi Chao; Han, Junhai; Xie, Wei] Southeast Univ, Key Lab Dev Genes & Human Dis, Inst Life Sci, Nanjing 210096, Jiangsu, Peoples R China. RP Han, JH (reprint author), Southeast Univ, Key Lab Dev Genes & Human Dis, Inst Life Sci, Nanjing 210096, Jiangsu, Peoples R China. EM junhaihan@seu.edu.cn; wei.xie@seu.edu.cn RI ZHANG, ZICHAO/C-1764-2014 OI ZHANG, ZICHAO/0000-0003-3402-7757 FU National Natural Science Foundation of China [30930051, 30970663, 91132706]; National Basic Research Program (973 Program) [2012CB517903]; New-Century Training Program Foundation for Talent by the State Education Commission; Youth Foundation of Southeast University FX We thank Dr. C.S. Zuker for providing ninaA269 flies, anti-INAD antibody, and anti-NINAA antibody; Dr. Hong-sheng Li for providing anti-TRP antibody and anti-Arr2 antibody; Dr. Suzanne Eaton for providing anti-ApoL I antibody, anti-ApoL II antibody, and p[UAS-RFABG] transgenic flies; Bloomington Stock Center for the flies; Dr. Zhengping Jia, Dr. Li-Yang Chiang, Dr. Zikai Zhou, and members of the Han laboratory for their critical comments on the manuscript. This work was supported by the National Natural Science Foundation of China (Key program 30930051) and the National Basic Research Program (973 Program) Grant (2012CB517903) to W.X. and the National Natural Science Foundation of China (30970663 and 91132706) and the New-Century Training Program Foundation for Talent by the State Education Commission and Youth Foundation of Southeast University to J.H. 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Lenartz, Doris Maarouf, Mohammad Treuer, Harald Mai, Juergen K. Lehmkuhl, Gerd TI DBS in the basolateral amygdala improves symptoms of autism and related self-injurious behavior: a case report and hypothesis on the pathogenesis of the disorder SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Article DE autism; self-injurious behavior; amygdala; deep brain stimulation ID SUBTHALAMIC NUCLEUS STIMULATION; TEMPORAL-LOBE EPILEPSY; PARKINSONS-DISEASE; PROJECTION NEURONS; EMOTION; INHIBITION; RELEVANCE; RESPONSES; BRAIN; MODEL AB We treated a 13-year-old boy for life-threatening self-injurious behavior (SIB) and severe Kanner's autism with deep brain stimulation (DBS) in the amygdaloid complex as well as in the supra-amygdaloid projection system. Two DBS-electrodes were placed in both structures of each hemisphere. The stimulation contacts targeted the paralaminar, the basolateral (BL), the central amygdala as well as the supra-amygdaloid projection system. DBS was applied to each of these structures, but only stimulation of the BL part proved effective in improving SIB and core symptoms of the autism spectrum in the emotional, social, and even cognitive domains over a follow up of now 24 months. These results, which have been gained for the first time in a patient, support hypotheses, according to which the amygdala may be pivotal in the pathogeneses of autism and point to the special relevance of the BL part. C1 [Sturm, Volker; Buehrle, Christian P.; Lenartz, Doris; Maarouf, Mohammad; Treuer, Harald] Univ Cologne, Dept Stereotact & Funct Neurosurg, D-50931 Cologne, Germany. [Fricke, Oliver; Lehmkuhl, Gerd] Univ Cologne, Dept Child & Adolescent Psychiat, D-50931 Cologne, Germany. [Mai, Juergen K.] Univ Dusseldorf, Dept Neuroanat, D-40225 Dusseldorf, Germany. RP Sturm, V (reprint author), Univ Hosp Cologne, Dept Stereotact & Funct Neurosurg, Kerpener Str 62, D-50937 Cologne, Germany. EM volker.sturm@uk-koeln.de FU Medtronic Inc. FX Volker Sturm is co-founder and shareholder in a start-up company (ANM GmbH, Cologne) aiming at the development and production of innovative Neurostimulators. He was supported by Medtronic Inc., with financial support of visits to some congresses. Medtronic Inc., also supported clinical DBS studies by providing impulse generators and DB Selectrodes. The other authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. 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TI Automatic facial responses to affective stimuli in high-functioning adults with autism spectrum disorder SO PHYSIOLOGY & BEHAVIOR LA English DT Article DE Autism; Asperger's; Affect; EMG; SCR; Evoked cardiac responses ID TYPICALLY DEVELOPING-CHILDREN; AFFECTIVE STARTLE MODULATION; CEREBRAL-BLOOD-FLOW; ORIENTING RESPONSE; ASPERGER-SYNDROME; EMOTION RECOGNITION; FACE RECOGNITION; YOUNG-CHILDREN; REFLEX; EXPRESSIONS AB Individuals with autism spectrum disorder (ASD) demonstrate atypical behavioural responses to affective stimuli, although the underlying mechanisms remain unclear. Investigating automatic responses to these stimuli may help elucidate these mechanisms. 18 high-functioning adults with ASDs and 18 typically developing controls viewed 54 extreme pleasant (erotica), extreme unpleasant (mutilations), and nonsocial neutral images from the International Affective Picture System (IAPS). Two-thirds of images received an acoustic startle probe 3 s post-picture onset. Facial electromyography (EMG) activity (orbicularis, zygomaticus, corrugator), skin conductance (SCR) and cardiac responses were recorded. The adults with ASDs demonstrated typical affective startle modulation and automatic facial EMG responses but atypical autonomic (SCRs and cardiac) responses, suggesting a failure to orient to, or a deliberate effort to disconnect from, socially relevant stimuli (erotica, mutilations). These results have implications for neural systems known to underlie affective processes, including the orbitofrontal cortex and amygdala. (C) 2012 Elsevier Inc. All rights reserved. C1 [Mathersul, Danielle; McDonald, Skye; Rushby, Jacqueline A.] Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia. RP Mathersul, D (reprint author), Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia. EM dmathersul@psy.unsw.edu.au RI McDonald, Skye/G-4118-2014 OI McDonald, Skye/0000-0003-0723-6094 FU Australian Postgraduate Award (APA); Australian National Health and Medical Research Council (NHMRC) [APP1013796] FX DM is supported by an Australian Postgraduate Award (APA). JAR is supported by an Australian National Health and Medical Research Council (NHMRC) Postdoctoral Fellowship (Clinical Training; APP1013796). This research was funded by the Australian National Health and Medical Research Council (NHMRC). We would like to thank the individuals who gave their time to participate in this study, and the clinicians who assisted with participant recruitment. 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In prenatal lipopolysaccharide (LPS) model of immune activation in rats, the offspring exhibit significant impairments in behaviors mediated by central dopamine (DA) system. This study aimed to examine the temporal and regional pattern of postnatal DA development in the male offspring of pregnant Sprague-Dawley rats administered with 100 mu g/kg LPS or saline at gestational days 15/16. Using ligand autoradiography, D1 and D2 dopamine receptors (D1R, D2R) and dopamine transporter (DAT) binding levels were measured in the prefrontal cortex (PFC) and sub cortical regions (dorsal striatum and nucleus accumbens core and shell) at pre pubertal (P35) and post pubertal ages (P60). We found a significant decrease in D2R ligand [H-3] YM-90151-2 binding in the medial PFC (mPFC) in prenatal LPS-treated animals at P35 and P60 compared to respective saline groups. The decrease in D2R levels was not observed in the striatum or accumbens of maternal LPS-treated animals. No significant changes were observed in [H-3] SCH23390 binding to D1R. However, the level of [I-125] RTI-121 binding to DAT was selectively reduced in the nucleus accumbens core and shell at P35 in the prenatal LPS group. Immunohistochemical analysis showed that number of D2R immunopositive cells in infralimbic/prelimbic (IL/PL) part of mPFC was significantly reduced in the LPS group at P60. Prenatal LPS treatment did not significantly affect either the total number of mature neurons or parvalbumin (PV)- immunopositive interneurons in this region. However the number of PV and D2R co-labeled neurons was significantly reduced in the IL/PL subregion of PFC of LPS treated animals. Our data suggests D2R deficit in the PFC and PV interneurons may be relevant to understanding mechanisms of cortical dysfunctions described in prenatal infection animal models as well as schizophrenia. C1 [Srivastava, Lalit K.] McGill Univ, Dept Psychiat, Montreal, PQ, Canada. 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Prior research reported low melatonin levels in autism spectrum disorders (ASD). ASMT located in pseudo-autosomal region 1 encodes the last enzyme of the melatonin biosynthesis pathway. A previous study reported an association between ASD and single nucleotide polymorphisms (SNPs) rs4446909 and rs5989681 located in the promoter of ASMT. Furthermore, rare deleterious mutations were identified in a subset of patients. To investigate the association between ASMT and autism, we sequenced all ASMT exons and its neighboring region in 398 Chinese Han individuals with autism and 437 healthy controls. Although our study did not detect significant differences of genotypic distribution and allele frequencies of the common SNPs in ASMT between patients with autism and healthy controls, we identified new rare coding mutations of ASMT. Among these rare variants, 4 were exclusively detected in patients with autism including a stop mutation (p.R115W, p.V166I, p.V179G, and p.W257X). These four coding variants were observed in 6 of 398 (1.51%) patients with autism and none in 437 controls (Chi-Square test, Continuity Correction p = 0.032, two-sided). Functional prediction of impact of amino acid showed that p.R115W might affect protein function. These results indicate that ASMT might be a susceptibility gene for autism. Further studies in larger samples are needed to better understand the degree of variation in this gene as well as to understand the biochemical and clinical impacts of ASMT/melatonin deficiency. C1 [Wang, Lifang; Li, Jun; Ruan, Yanyan; Lu, Tianlan; Liu, Chenxing; Jia, Meixiang; Yue, Weihua; Liu, Jing; Zhang, Dai] Peking Univ, Minist Hlth, Key Lab Mental Hlth, Beijing 100871, Peoples R China. [Wang, Lifang; Li, Jun; Ruan, Yanyan; Lu, Tianlan; Liu, Chenxing; Yue, Weihua; Zhang, Dai] Peking Univ, Inst Mental Hlth, Beijing 100871, Peoples R China. [Zhang, Dai] Peking Tsinghua Ctr Life Sci, Beijing, Peoples R China. [Bourgeron, Thomas] Inst Pasteur, CNRS, URA Genes Synapses & Cognit 2182, Paris, France. [Bourgeron, Thomas] Univ Paris Diderot, Paris, France. RP Wang, LF (reprint author), Peking Univ, Minist Hlth, Key Lab Mental Hlth, Beijing 100871, Peoples R China. EM lifangwang@bjmu.edu.cn; daizhang@bjmu.edu.cn FU National Basic Research Development Program of China (973 program) [2010CB833905]; National Natural Science Foundation [30870897, 81071110]; Beijing Natural Science Foundation [7081005] FX This work was supported by research grants from the National Basic Research Development Program of China (973 program 2010CB833905), National Natural Science Foundation (grant number 30870897 and 81071110), and Beijing Natural Science Foundation (grant number: 7081005). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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TI Activity-dependent neuronal signalling and autism spectrum disorder SO NATURE LA English DT Review ID X MENTAL-RETARDATION; DE-NOVO MUTATIONS; DENDRITIC SPINE MORPHOLOGY; LONG-TERM DEPRESSION; FRAGILE-X; MOUSE MODEL; SYNAPTIC PLASTICITY; BDNF TRANSCRIPTION; RETT-SYNDROME; FMRP PHOSPHORYLATION AB Neuronal activity induces the post-translational modification of synaptic molecules, promotes localized protein synthesis within dendrites and activates gene transcription, thereby regulating synaptic function and allowing neuronal circuits to respond dynamically to experience. Evidence indicates that many of the genes that are mutated in autism spectrum disorder are crucial components of the activity-dependent signalling networks that regulate synapse development and plasticity. Dysregulation of activity-dependent signalling pathways in neurons may, therefore, have a key role in the aetiology of autism spectrum disorder. 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Khoutorsky, Arkady Ran, Israeli Rampakakis, Emmanouil Nevarko, Tatiana Weatherill, Daniel B. Vasuta, Cristina Yee, Stephanie Truitt, Morgan Dallaire, Paul Major, Francois Lasko, Paul Ruggero, Davide Nader, Karim Lacaille, Jean-Claude Sonenberg, Nahum TI Autism-related deficits via dysregulated eIF4E-dependent translational control SO NATURE LA English DT Article ID FRAGILE-X-SYNDROME; COPY-NUMBER VARIATION; TUBEROUS-SCLEROSIS; ULTRASONIC VOCALIZATIONS; INHIBITORY SYNAPSES; SYNAPTIC PLASTICITY; SPECTRUM DISORDERS; LEARNING-DEFICITS; REPRESSOR 4E-BP2; MOUSE MODELS AB Hyperconnectivity of neuronal circuits due to increased synaptic protein synthesis is thought to cause autism spectrum disorders (ASDs). The mammalian target of rapamycin (mTOR) is strongly implicated in ASDs by means of upstream signalling; however, downstream regulatory mechanisms are ill-defined. Here we show that knockout of the eukaryotic translation initiation factor 4E-binding protein 2 (4E-BP2)-an eIF4E repressor downstream of mTOR-or eIF4E overexpression leads to increased translation of neuroligins, which are postsynaptic proteins that are causally linked to ASDs. Mice that have the gene encoding 4E-BP2 (Eif4ebp2) knocked out exhibit an increased ratio of excitatory to inhibitory synaptic inputs and autistic-like behaviours (that is, social interaction deficits, altered communication and repetitive/stereotyped behaviours). Pharmacological inhibition of eIF4E activity or normalization of neuroligin 1, but not neuroligin 2, protein levels restores the normal excitation/inhibition ratio and rectifies the social behaviour deficits. Thus, translational control by eIF4E regulates the synthesis of neuroligins, maintaining the excitation-to-inhibition balance, and its dysregulation engenders ASD-like phenotypes. C1 [Gkogkas, Christos G.; Khoutorsky, Arkady; Rampakakis, Emmanouil; Nevarko, Tatiana; Sonenberg, Nahum] McGill Univ, Dept Biochem, Montreal, PQ H3A 1A3, Canada. [Gkogkas, Christos G.; Khoutorsky, Arkady; Rampakakis, Emmanouil; Nevarko, Tatiana; Sonenberg, Nahum] McGill Univ, Goodman Canc Res Ctr, Montreal, PQ H3A 1A3, Canada. [Ran, Israeli; Weatherill, Daniel B.; Vasuta, Cristina; Lacaille, Jean-Claude] Univ Montreal, GRSNC, Montreal, PQ H3C 3J7, Canada. [Ran, Israeli; Weatherill, Daniel B.; Vasuta, Cristina; Lacaille, Jean-Claude] Univ Montreal, Dept Physiol, Montreal, PQ H3C 3J7, Canada. [Rampakakis, Emmanouil] JSS Med Res Inc, Montreal, PQ H4S 1N8, Canada. [Yee, Stephanie; Lasko, Paul] McGill Univ, Dept Biol, Montreal, PQ H3G 0B1, Canada. [Truitt, Morgan; Ruggero, Davide] Univ Calif San Francisco, Sch Med, San Francisco, CA 94158 USA. [Truitt, Morgan; Ruggero, Davide] Univ Calif San Francisco, Helen Diller Family Comprehens Canc Ctr, Dept Urol, San Francisco, CA 94158 USA. [Dallaire, Paul; Major, Francois] Univ Montreal, Dept Comp Sci, Montreal, PQ H3C 3J7, Canada. [Dallaire, Paul; Major, Francois] Univ Montreal, Inst Res Immunol & Canc, Montreal, PQ H3C 3J7, Canada. [Nader, Karim] McGill Univ, Dept Psychol, Montreal, PQ H3A 1B1, Canada. RP Sonenberg, N (reprint author), McGill Univ, Dept Biochem, Montreal, PQ H3A 1A3, Canada. EM jean-claude.lacaille@umontreal.ca; nahum.sonenberg@mcgill.ca RI Ran, Israeli/B-2432-2009; Lasko, Paul/C-6761-2014 OI Ran, Israeli/0000-0003-4824-6416; Lasko, Paul/0000-0002-4037-3501 FU Canadian Institutes of Health Research [MOP-114994, MOP-10848, MOP-93679, MOP-44050]; Autism Speaks [7109]; Fonds de la Recherche en Sante du Quebec (FRSQ; Groupe de Recherche sur le Systeme Nerveux Central); National Institutes of Health [NIH RO1 CA154916, NIH RO1 CA140456]; Canada Research Chair in Cellular and Molecular Neurophysiology; Savoy Foundation FX This work was supported by the Canadian Institutes of Health Research (N.S., MOP-114994; J.-C.L., MOP-10848; P.D. and F.M., MOP-93679; and P.L. and N.S., MOP-44050), Autism Speaks (Grant 7109 to N.S.), and the Fonds de la Recherche en Sante du Quebec (J.-C.L. FRSQ; Groupe de Recherche sur le Systeme Nerveux Central), and the National Institutes of Health (D.R.; NIH RO1 CA154916 and NIH RO1 CA140456). D.R. is a Leukemia & Lymphoma Society Scholar. J.-C.L. is the recipient of the Canada Research Chair in Cellular and Molecular Neurophysiology. I.R. was supported by a Fellowship of the Savoy Foundation. We thank Y. Svitkin, A. Parsyan, E. Petroulakis, R. Karni and V. Polunovski for advice; K. Gamache, A. Sylvestre, S. Perreault, C. Lister and I. Harvey for technical assistance; T. Alain for assistance with lentiviral titration; S. Hamdani for assistance with USVs; and W. Sossin and P. Skehel for critical reading of the manuscript. 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MacAskill, Andrew F. Carter, Adam G. Pierre, Philippe Ruggero, Davide Kaphzan, Hanoch Klann, Eric TI Exaggerated translation causes synaptic and behavioural aberrations associated with autism SO NATURE LA English DT Article ID FRAGILE-X-SYNDROME; LONG-TERM DEPRESSION; PROTEIN-SYNTHESIS; TUBEROUS-SCLEROSIS; DENDRITIC SPINES; MUTANT MICE; INHIBITION; MEMORY; MODEL; DYSFUNCTIONS AB Autism spectrum disorders (ASDs) are an early onset, heterogeneous group of heritable neuropsychiatric disorders with symptoms that include deficits in social interaction skills, impaired communication abilities, and ritualistic-like repetitive behaviours(1,2). One of the hypotheses for a common molecular mechanism underlying ASDs is altered translational control resulting in exaggerated protein synthesis(3). Genetic variants in chromosome 4q, which contains theEIF4E locus, have been described in patients with autism(4,5). Importantly, a rare single nucleotide polymorphism has been identified in autism that is associated with increased promoter activity in the EIF4E gene(6). Here we show that genetically increasing the levels of eukaryotic translation initiation factor 4E (eIF4E) in mice(7) results in exaggerated cap-dependent translation and aberrant behaviours reminiscent of autism, including repetitive and perseverative behaviours and social interaction deficits. Moreover, these autistic-like behaviours are accompanied by synaptic pathophysiology in the medial prefrontal cortex, striatumand hippocampus. The autistic-like behaviours displayed by the eIF4E-transgenic mice are corrected by intracerebroventricular infusions of the cap-dependent translation inhibitor 4EGI-1. Our findings demonstrate a causal relationship between exaggerated cap-dependent translation, synaptic dysfunction and aberrant behaviours associated with autism. C1 [Santini, Emanuela; Huynh, Thu N.; MacAskill, Andrew F.; Carter, Adam G.; Kaphzan, Hanoch; Klann, Eric] NYU, Ctr Neural Sci, New York, NY 10003 USA. [Pierre, Philippe] Aix Marseille Univ, Ctr Immunol Marseille Luminy, F-13288 Marseille, France. [Pierre, Philippe] INSERM, U1104, F-13288 Marseille, France. [Pierre, Philippe] CNRS, URM 7280, F-13288 Marseille, France. [Ruggero, Davide] Univ Calif San Francisco, Helen Diller Family Comprehens Canc Ctr, Sch Med, Dept Urol, San Francisco, CA 94143 USA. RP Klann, E (reprint author), NYU, Ctr Neural Sci, New York, NY 10003 USA. EM eklann@cns.nyu.edu RI Huynh, Thu/I-5864-2014 OI Huynh, Thu/0000-0002-7625-5101 FU National Institutes of Health (NIH) [NS034007, NS047384, NS078718]; Department of Defense CDMRP [W81XWH-11-1-0389]; NIH [CA154916]; Wellcome Trust FX We would like to thank J. LeDoux and members of his laboratory for their technical support and suggestions. We would also like to thank D. St Clair and Z. Miedzybrodzka for their comments on the manuscript. This research was supported by National Institutes of Health (NIH) grants NS034007, NS047384 and NS078718, and Department of Defense CDMRP award W81XWH-11-1-0389 (E. K.), NIH grant CA154916 (D. R.) and the Wellcome Trust (A.F.M.). 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Methods: Ten primary studies were classified using the American Academy of Neurology's criteria (class IIV, I = highest level of evidence). We provided recommendations including Level A: intervention/factors are effective/predictive or not; Level B: probably effective/predictive or not; Level C: possibly effective/predictive or not; Level U: no recommendations. Results: For the intervention studies we identified 1 Class II and 1 Class III study; for predictor studies, we identified 7 ADHD studies consisting of 1 Class II and 6 Class III studies. Only 1 Class III ASD study was found. In synopsizing the evidence, the following recommendations are made for the intervention studies pertaining to on-road performance in teens with ADHD: a multimodal intervention is possibly effective in improving driving performance (Level C); stimulants possibly do not affect driving negatively (Level C); no recommendations can be made for hazard perception training in ADHD or ASD (Level U). Consider the following recommendations useful for simulated driving performance: Stimulants possibly improve driving performance (Level C); ADHD diagnosis and being unmedicated possibly worsen driving performance (Level C); no recommendations for driving in low-stimulus conditions (Level U). From self-/proxy report, no recommendations can be made related to gender or ADHD subtype affecting adverse driving outcomes (Level U). Conclusion: Class I studies with Level A recommendations, currently lacking in the literature, are urgently needed to make clear the mechanism underlying driving performance outcomes in ADHD and ASD. Supplementary materials are available for this article. Go to the publisher's online edition of Traffic Injury Prevention for the following supplemental resource: Table: Evidence-based Synopsis of ADHD, ASD and Driving Performance: Variables, Sample, Findings & Rationale C1 [Classen, Sherrilene; Monahan, Miriam] Univ Florida, Coll Publ Hlth & Hlth Profess, Inst Mobil Act & Participat, Gainesville, FL 32610 USA. [Classen, Sherrilene; Monahan, Miriam] Univ Florida, Coll Publ Hlth & Hlth Profess, Dept Occupat Therapy, Gainesville, FL 32610 USA. RP Classen, S (reprint author), Univ Florida, Coll Publ Hlth & Hlth Profess, Dept Occupat Therapy, POB 100164, Gainesville, FL 32610 USA. EM sclassen@phhp.ufl.edu FU UF&Shands Quasi Endowment Fund; Institute for Mobility, Activity and Participation FX This study was funded by the 2011-2012 UF&Shands Quasi Endowment Fund (principal investigator: Classen). The Institute for Mobility, Activity and Participation provided infrastructure and support. 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Smith, Rachel G. Graves, Michael M. Piven, Joseph Gilmore, John H. Dager, Stephen R. McKinstry, Robert C. Paterson, Sarah Evans, Alan C. Collins, D. Louis Gerig, Guido Styner, Martin Andreas CA IBIS Network TI Adaptive prior probability and spatial temporal intensity change estimation for segmentation of the one-year-old human brain SO JOURNAL OF NEUROSCIENCE METHODS LA English DT Article DE Myelination; Expectation Maximization algorithm; Tissue segmentation; Intensity growth map; Partial volume estimation ID MAGNETIZATION-TRANSFER RATIO; WHITE-MATTER MATURATION; CEREBRAL-BLOOD-FLOW; NEONATAL BRAIN; MR-IMAGES; PRETERM SUBJECTS; CHILDREN; AUTISM; MODEL; CLASSIFICATION AB The degree of white matter (WM) myelination is rather inhomogeneous across the brain. White matter appears differently across the cortical lobes in MR images acquired during early postnatal development. Specifically at 1-year of age, the gray/white matter contrast of MRT1 and T2 weighted images in prefrontal and temporal lobes is reduced as compared to the rest of the brain, and thus, tissue segmentation results commonly show lower accuracy in these lobes. In this novel work, we propose the use of spatial intensity growth maps (IGM) for T1 and 12 weighted images to compensate for local appearance inhomogeneity. The IGM captures expected intensity changes from 1 to 2 years of age, as appearance homogeneity is greatly improved by the age of 24 months. The IGM was computed as the coefficient of a voxel-wise linear regression model between corresponding intensities at 1 and 2 years. The proposed IGM method revealed low regression values of 1-10% in GM and CSF regions, as well as in WM regions at maturation stage of myelination at 1 year. However, in the prefrontal and temporal lobes we observed regression values of 20-25%, indicating that the IGM appropriately captures the expected large intensity change in these lobes mainly due to myelination. The IGM is applied to cross-sectional MRI datasets of 1-year-old subjects via registration, correction and tissue segmentation of the IGM-corrected dataset. We validated our approach in a small leave-one-out study of images with known, manual 'ground truth' segmentations. Published by Elsevier B.V. C1 [Kim, Sun Hyung; Dietrich, Cheryl; Vachet, Clement; Hazlett, Heather C.; Smith, Rachel G.; Graves, Michael M.; Piven, Joseph; Gilmore, John H.; Styner, Martin Andreas] Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27515 USA. [Fonov, Vladimir S.; Evans, Alan C.; Collins, D. Louis] McGill Univ, Montreal Neurol Inst, McConnell Brain Imaging Ctr, Montreal, PQ, Canada. [Gerig, Guido] Univ Utah, Sci Comp & Imaging Inst, Sch Comp, Salt Lake City, UT USA. [Styner, Martin Andreas] Univ N Carolina, Dept Comp Sci, Chapel Hill, NC USA. [Dager, Stephen R.] Univ Washington, Dept Radiol, Seattle, WA 98195 USA. [McKinstry, Robert C.] Washington Univ, Dept Radiol, St Louis, MO USA. [Paterson, Sarah] Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA. RP Kim, SH (reprint author), Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27515 USA. EM shykim@email.unc.edu RI Pike, Bruce/K-5562-2014 OI Pike, Bruce/0000-0001-8924-683X FU IBIS (Infant Brain Imaging Study) Network; NIH [HD055741, P50 MH 064065, MH070890, HD053000, U54 EB005149-01]; UNC Intellectual and Developmental Disabilities Research Center [P30 HD03110, R01 MH091645] FX Funding was provided primarily from the IBIS (Infant Brain Imaging Study) Network, an NIH funded Autism Center of Excellence (HD055741) that consists of a consortium of 7 Universities in the U.S. and Canada. Clinical Sites: University of North Carolina: J. Piven (IBIS Network PI), H.C. Hazlett, C. Chappell; University of Washington: S.R. Dager, A. Estes; Washington University: K. Botteron, R.C. McKinstry, J. Contstantino, L Flake; Children's Hospital of Philadelphia: R. Schultz, S. Paterson; University of Alberta: L. Zwaigenbaum. Data Coordinating Center: Montreal Neurological Institute: A. Evans, L Collins, B. Pike, V.S. Fonov, R. Aleong, S. Das. Image Processing Core: University of Utah: G. Gerig; University of North Carolina: M.A. Styner. Statistical Analysis Core: University of North Carolina: H. Gu. Genetics Analysis Core: University of North Carolina: P. Sullivan, F. Wright.Additional support is provided by the following grants: NIH grants P50 MH 064065 (JHG, MAS), MH070890 (JHG, MAS), HD053000 (JHG), and UNC Intellectual and Developmental Disabilities Research Center P30 HD03110 (MAS, SJS), R01 MH091645 (MAS), NIH Roadmap Grant U54 EB005149-01 (MAS). 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Theory of mind (ToM) refers to the ability to represent other's mental states, and has been tested in a variety of different paradigms in older adults. The overarching research question has been whether ToM abilities may rely on other cognitive abilities, such as processing speed or executive functioning, and as such declines in TOM may reflect a decline in general meta-representational abilities. Alternatively, ToM abilities may be relatively spared, suggesting the acquisition of a sort of social wisdom with advancing age. The preponderance of the evidence is in line with the first possibility: namely. ToM, as measured by paradigms involving faces, cartoons, stories, and videos is typically impaired in social aging, and these impairments are at least partly mediated by impairments in executive functions and fluid intelligence (but not typically by crystallized intelligence). Neuroimaging investigations suggest that older adults who perform as well as younger adults may activate compensatory mechanisms, but are impaired in the brain mechanisms most closely associated with ToM ability when their task performance is impaired. Recent methodological advances allowing continuous rather than categorical assessment of ToM show that ToM may be observed to function independently from general cognition in aging, but further investigation is needed to confirm this point. Implications of these findings for the longstanding discussion regarding Theory of Mind's endangered status as a special cognitive module are discussed. (C) 2012 Elsevier B.V. All rights reserved. C1 Harvard Univ, Ctr Brain Sci, Dept Psychol, Cambridge, MA 02138 USA. RP Moran, JM (reprint author), Harvard Univ, Ctr Brain Sci, Dept Psychol, 52 Oxford St,290-01, Cambridge, MA 02138 USA. 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Brain Res. PD JAN 15 PY 2013 VL 237 BP 32 EP 40 DI 10.1016/j.bbr.2012.09.020 PG 9 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA 051IG UT WOS:000312119200005 PM 23000532 ER PT J AU Fairless, AH Katz, JM Vijayvargiya, N Dow, HC Kreibich, AS Berrettini, WH Abel, T Brodkin, ES AF Fairless, Andrew H. Katz, Julia M. Vijayvargiya, Neha Dow, Holly C. Kreibich, Arati Sadalge Berrettini, Wade H. Abel, Ted Brodkin, Edward S. TI Development of home cage social behaviors in BALB/cJ vs. C57BL/6J mice SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Mouse; Social; Behavior; Development; Genetic; Environment ID AUTISTIC-LIKE BEHAVIORS; INBRED MOUSE STRAINS; FRAGILE-X-SYNDROME; BTBR-T+TF/J MICE; ULTRASONIC COMMUNICATION; REPETITIVE BEHAVIOR; CORPUS-CALLOSUM; ADOLESCENT MICE; KNOCKOUT MICE; MODEL AB BALB/cJ and C57BL/6J inbred mouse strains have been proposed as useful models of low and high levels of sociability (tendency to seek social interaction), respectively, based primarily on behaviors of similar to 30-day-old mice in the Social Approach Test (SAT). In the SAT, approach and sniffing behaviors of a test mouse toward an unfamiliar stimulus mouse are measured in a novel environment. However, it is unclear whether such results generalize to a familiar environment with a familiar social partner, such as with a littermate in a home cage environment. We hypothesized that C57BL/6J mice would show higher levels of social behaviors than BALB/cJ mice in the home cage environment, particularly at 30 days-of-age. We measured active and passive social behaviors in home cages by pairs of BALB/cJ or C57BL/6J littermates at ages 30, 41, and 69 days. The strains did not differ robustly in their active social behaviors. C57BL/6J mice were more passively social than BALB/cJ mice at 30 days, and C57BL/6J levels of passive social behaviors declined to BALB/cJ levels by 69 days. The differences in passive social behaviors at 30 days-of-age were primarily attributable to differences in huddling. These results indicate that different test conditions (SAT conditions vs. home cage conditions) elicit strain differences in distinct types of behaviors (approach/sniffing vs. huddling behaviors, respectively). Assessment of the more naturalistic social interactions in the familiar home cage environment with a familiar littermate will provide a useful component of a comprehensive assessment of social behaviors in mouse models relevant to autism. (C) 2012 Elsevier B.V. All rights reserved. C1 [Fairless, Andrew H.; Katz, Julia M.; Vijayvargiya, Neha; Dow, Holly C.; Kreibich, Arati Sadalge; Berrettini, Wade H.; Brodkin, Edward S.] Univ Penn, Ctr Neurobiol & Behav, Perelman Sch Med, Dept Psychiat,Translat Res Lab, Philadelphia, PA 19104 USA. [Abel, Ted] Univ Penn, Dept Biol, Lynch Lab 204G, Philadelphia, PA 19104 USA. RP Brodkin, ES (reprint author), Univ Penn, Ctr Neurobiol & Behav, Perelman Sch Med, Dept Psychiat,Translat Res Lab, 125 S 31st St,Room 2220, Philadelphia, PA 19104 USA. EM ebrodkin@mail.med.upenn.edu FU National Institutes of Health [R01MH080718]; ARRA [3R01MH080718-03S1]; Pennsylvania Department of Health (SAP) [4100043366]; Burroughs Wellcome Fund Career Award in the Biomedical Sciences; [5-T32-MH017168] FX This work was supported by National Institutes of Health Grants R01MH080718 (E.S.B.), ARRA supplement 3R01MH080718-03S1 (E.S.B.), 5-T32-MH017168 (T.A., training grant supporting A.H.F.), Pennsylvania Department of Health (SAP# 4100043366), Burroughs Wellcome Fund Career Award in the Biomedical Sciences (E.S.B.). We thank Professors Tracy L. Bale, Julie A. Blendy, and Steven A. Thomas for their advice on the project. 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. The Pennsylvania Department of Health specifically disclaims responsibility for any analyses, interpretations, or conclusions. 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TI Selective preservation of MeCP2 in catecholaminergic cells is sufficient to improve the behavioral phenotype of male and female Mecp2-deficient mice SO HUMAN MOLECULAR GENETICS LA English DT Article ID CPG-BINDING PROTEIN-2; RETT-SYNDROME; MOUSE MODEL; SUBSTANTIA-NIGRA; LIFE-SPAN; NEURONS; AUTISM; BRAIN; NOREPINEPHRINE; DEFICIENCY AB Rett syndrome (RTT) is a neurodevelopmental disorder caused primarily by mutations of the X-linked MECP2 gene. Although the loss of MeCP2 function affects many neural systems, impairments of catecholaminergic function have been hypothesized to underlie several of the cardinal behavioral deficits of RTT patients and Mecp2-deficient mice. Although recent Mecp2 reactivation studies indicate that RTT may be a reversible condition, it remains unclear whether specifically preserving Mecp2 function within a specific system will be sufficient to convey beneficial effects. Here, we test whether the selective preservation of Mecp2 within catecholaminergic cells will improve the phenotype of Mecp2-deficient mice. Our results show that this targeted preservation of Mecp2 significantly improves the lifespan, phenotypic severity and cortical epileptiform discharge activity of both male and female Mecp2-deficient mice. Further, we found that the catecholaminergic preservation of Mecp2 also improves the ambulatory rate, rearing activity, motor coordination, anxiety and nest-building performances of Mecp2-deficient mice of each gender. Interestingly, our results also revealed a gender-specific improvement, as specific cortical and hippocampal electroencephalographic abnormalities were significantly improved in male, but not female, rescue mice. Collectively, these results support the role of the catecholaminergic system in the pathogenesis of RTT and provide proof-of-principle that restoring MeCP2 function within this specific system could represent a treatment strategy for RTT. C1 [Lang, Min; Wither, Robert G.; Eubanks, James H.] Univ Hlth Network, Toronto Western Res Inst, Div Genet & Dev, Toronto, ON M5T 2S8, Canada. [Brotchie, Jonathan M.] Univ Hlth Network, Toronto Western Res Inst, Div Brain Imaging & Behav, Toronto, ON M5T 2S8, Canada. [Wu, Chiping; Zhang, Liang] Univ Hlth Network, Toronto Western Res Inst, Div Fundamental Neurosci, Toronto, ON M5T 2S8, Canada. [Lang, Min; Wither, Robert G.; Wu, Chiping; Zhang, Liang; Eubanks, James H.] Univ Toronto, Epilepsy Res Program, Toronto, ON M5S 1A8, Canada. [Zhang, Liang] Univ Toronto, Dept Neurol, Toronto, ON M5S 1A8, Canada. [Eubanks, James H.] Univ Toronto, Dept Surg Neurosurg, Toronto, ON M5S 1A8, Canada. RP Eubanks, JH (reprint author), Univ Hlth Network, Toronto Western Res Inst, Div Genet & Dev, Mac 13-423,399 Bathurst St, Toronto, ON M5T 2S8, Canada. EM jeubanks@uhnres.utoronto.ca FU Canadian Institutes of Health Research [MOP-106481]; International Rett Syndrome Foundation [IRSF-2475] FX This work was supported by the Canadian Institutes of Health Research (MOP-106481 to J.H.E.) and the International Rett Syndrome Foundation (IRSF-2475 to J.H.E. and L.Z.). M. L. was a recipient of a University of Toronto Entry Fellowship. 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Leppert, Mark Hakonarson, Hakon TI Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population SO PLOS ONE LA English DT Article ID SPECTRUM DISORDERS; DE-NOVO; CHROMOSOMAL REARRANGEMENTS; MENTAL-RETARDATION; HIGH-FREQUENCY; TWIN PAIRS; GENES; LINKAGE; SCHIZOPHRENIA; LOCI AB Structural variation is thought to play a major etiological role in the development of autism spectrum disorders (ASDs), and numerous studies documenting the relevance of copy number variants (CNVs) in ASD have been published since 2006. To determine if large ASD families harbor high-impact CNVs that may have broader impact in the general ASD population, we used the Affymetrix genome-wide human SNP array 6.0 to identify 153 putative autism-specific CNVs present in 55 individuals with ASD from 9 multiplex ASD pedigrees. To evaluate the actual prevalence of these CNVs as well as 185 CNVs reportedly associated with ASD from published studies many of which are insufficiently powered, we designed a custom Illumina array and used it to interrogate these CNVs in 3,000 ASD cases and 6,000 controls. Additional single nucleotide variants (SNVs) on the array identified 25 CNVs that we did not detect in our family studies at the standard SNP array resolution. After molecular validation, our results demonstrated that 15 CNVs identified in high-risk ASD families also were found in two or more ASD cases with odds ratios greater than 2.0, strengthening their support as ASD risk variants. In addition, of the 25 CNVs identified using SNV probes on our custom array, 9 also had odds ratios greater than 2.0, suggesting that these CNVs also are ASD risk variants. Eighteen of the validated CNVs have not been reported previously in individuals with ASD and three have only been observed once. Finally, we confirmed the association of 31 of 185 published ASD-associated CNVs in our dataset with odds ratios greater than 2.0, suggesting they may be of clinical relevance in the evaluation of children with ASDs. Taken together, these data provide strong support for the existence and application of high-impact CNVs in the clinical genetic evaluation of children with ASD. C1 [Matsunami, Nori; Stevens, Jeff; Baird, Lisa; Otterud, Brith; Varvil, Tena; Leppert, Tami; Leppert, Mark] Univ Utah, Dept Human Genet, Salt Lake City, UT USA. [Hadley, Dexter; Kim, Cecilia; Frackelton, Edward; Thomas, Kelly; da Silva, Renata Pellegrino; Hakonarson, Hakon] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA. [Hensel, Charles H.; Ho, Karen] Lineagen Inc, Salt Lake City, UT USA. [Christensen, G. Bryce; Lambert, Christophe G.] Golden Helix Inc, Bozeman, MT USA. [Hakonarson, Hakon] Univ Penn, Sch Med, Dept Pediat, Philadelphia, PA 19104 USA. RP Hakonarson, H (reprint author), Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA. EM hakonarson@email.chop.edu FU National Institute of Mental Health [1U24MH081810]; Margaret Q. Landenberger Foundation; Lineagen, Inc. FX All Utah subjects were ascertained and DNA collected with support from R01 MH 06359 from the National Institute of Mental Health and U19HD035476 from the National Institute of Child Health and Human Development. DNA was processed with support from GCRC M01-RR025764 from the National Center for Research Resources. 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). Dr. Hakonaron is additionally supported by the Margaret Q. Landenberger Foundation. Additional funding for this study was provided by Lineagen, Inc. Scientific input into study design, data analysis, and preparation of the manuscript were provided by two authors who are Lineagen employees (CHH, KH). The remaining funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Donnelly, Nick Rogier, Ophelie Russo, Britt Hippolyte, Loyse Hadwin, Julie Lemonnier, Eric Hadjikhani, Nouchine TI It's All in the Eyes: Subcortical and Cortical Activation during Grotesqueness Perception in Autism SO PLOS ONE LA English DT Article ID UPSIDE-DOWN FACES; SPECTRUM DISORDERS; THATCHER ILLUSION; FUNCTIONAL NEUROANATOMY; HUMAN BRAIN; FACIAL EXPRESSIONS; ASPERGER-SYNDROME; INVERTED FACES; FEARFUL FACES; CHILDREN AB Atypical face processing plays a key role in social interaction difficulties encountered by individuals with autism. In the current fMRI study, the Thatcher illusion was used to investigate several aspects of face processing in 20 young adults with high-functioning autism spectrum disorder (ASD) and 20 matched neurotypical controls. "Thatcherized" stimuli were modified at either the eyes or the mouth and participants discriminated between pairs of faces while cued to attend to either of these features in upright and inverted orientation. Behavioral data confirmed sensitivity to the illusion and intact configural processing in ASD. Directing attention towards the eyes vs. the mouth in upright faces in ASD led to (1) improved discrimination accuracy; (2) increased activation in areas involved in social and emotional processing; (3) increased activation in subcortical face-processing areas. Our findings show that when explicitly cued to attend to the eyes, activation of cortical areas involved in face processing, including its social and emotional aspects, can be enhanced in autism. This suggests that impairments in face processing in autism may be caused by a deficit in social attention, and that giving specific cues to attend to the eye-region when performing behavioral therapies aimed at improving social skills may result in a better outcome. C1 [Zuercher, Nicole R.; Rogier, Ophelie; Russo, Britt; Hippolyte, Loyse; Hadjikhani, Nouchine] Ecole Polytech Fed Lausanne, Brain Mind Inst, CH-1015 Lausanne, Switzerland. [Donnelly, Nick; Hadwin, Julie] Univ Southampton, Sch Psychol, Southampton, Hants, England. [Lemonnier, Eric] CHRU Brest Hop Bohars, Ctr Ressources Autisme Bretagne, Bohars, France. [Lemonnier, Eric] Univ Brest, CHRU Brest Hop Bohars, Bohars, France. [Hadjikhani, Nouchine] Harvard Univ, Sch Med, MGH HMS MIT A Martinos Ctr Biomed Imaging, Charlestown, MA USA. RP Hadjikhani, N (reprint author), Ecole Polytech Fed Lausanne, Brain Mind Inst, CH-1015 Lausanne, Switzerland. EM nouchine@nmr.mgh.harvard.edu RI Hadjikhani, Nouchine/C-2018-2008; Centre d'imagerie Biomedicale, CIBM/B-5740-2012 OI Hadjikhani, Nouchine/0000-0003-4075-3106; FU Swiss National Science Foundation [PP00P3-130191]; Velux Stiftung; Centre d'Imagerie BioMedicale (CIBM) of the University of Lausanne (UNIL); Swiss Federal Institute of Technology Lausanne (EPFL); University of Geneva (UniGe); Centre Hospitalier Universitaire Vaudois (CHUV); Hopitaux Universitaires de Geneve (HUG); Leenaards Foundation; Jeantet Foundation FX This work was supported by the Swiss National Science Foundation (PP00P3-130191 to NH) and by the Velux Stiftung; by the Centre d'Imagerie BioMedicale (CIBM) of the University of Lausanne (UNIL), the Swiss Federal Institute of Technology Lausanne (EPFL), the University of Geneva (UniGe), the Centre Hospitalier Universitaire Vaudois (CHUV), the Hopitaux Universitaires de Geneve (HUG) and the Leenaards and the Jeantet Foundations. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Baron-Cohen, Simon Ring, Howard TI Task- related functional connectivity in autism spectrum conditions: an EEG study using wavelet transform coherence SO MOLECULAR AUTISM LA English DT Article DE Autism spectrum conditions; Interhemispheric coherence; Atypical connectivity; Wavelet transform coherence ID FALSE DISCOVERY RATE; CORTICAL CONNECTIVITY; WHITE-MATTER; BRAIN CONNECTIVITY; FACE PERCEPTION; WORKING-MEMORY; TIME-COURSE; DISORDER; CHILDREN; UNDERCONNECTIVITY AB Background: Autism Spectrum Conditions (ASC) are a set of pervasive neurodevelopmental conditions characterized by a wide range of lifelong signs and symptoms. Recent explanatory models of autism propose abnormal neural connectivity and are supported by studies showing decreased interhemispheric coherence in individuals with ASC. The first aim of this study was to test the hypothesis of reduced interhemispheric coherence in ASC, and secondly to investigate specific effects of task performance on interhemispheric coherence in ASC. Methods: We analyzed electroencephalography (EEG) data from 15 participants with ASC and 15 typical controls, using Wavelet Transform Coherence (WTC) to calculate interhemispheric coherence during face and chair matching tasks, for EEG frequencies from 5 to 40 Hz and during the first 400 ms post-stimulus onset. Results: Results demonstrate a reduction of interhemispheric coherence in the ASC group, relative to the control group, in both tasks and for all electrode pairs studied. For both tasks, group differences were generally observed after around 150 ms and at frequencies lower than 13 Hz. Regarding within-group task comparisons, while the control group presented differences in interhemispheric coherence between faces and chairs tasks at various electrode pairs (FT7-FT8, TP7-TP8, P7-P8), such differences were only seen for one electrode pair in the ASC group (T7-T8). No significant differences in EEG power spectra were observed between groups. Conclusions: Interhemispheric coherence is reduced in people with ASC, in a time and frequency specific manner, during visual perception and categorization of both social and inanimate stimuli and this reduction in coherence is widely dispersed across the brain. Results of within-group task comparisons may reflect an impairment in task differentiation in people with ASC relative to typically developing individuals. Overall, the results of this research support the value of WTC in examining the time-frequency microstructure of task-related interhemispheric EEG coherence in people with ASC. C1 [Catarino, Ana; Wagner, Adam P.; Ring, Howard] Univ Cambridge, Dept Psychiat, Cambridge Intellectual & Dev Disabil Res Grp, Cambridge CB2 8AH, England. [Catarino, Ana; Andrade, Alexandre] Univ Lisbon, Fac Sci, Inst Biophys & Biomed Engn, P-1749016 Lisbon, Portugal. [Churches, Owen] Univ S Australia, Adelaide, SA 5001, Australia. [Wagner, Adam P.] Natl Inst Hlth Res NIHR Collaborat Leadership App, Peterborough, Cambs, England. [Baron-Cohen, Simon] Univ Cambridge, Autism Res Ctr, Dept Psychiat, Cambridge CB2 8AH, England. [Ring, Howard] Cambridgeshire & Peterborough NHS Fdn Trust, Fulbourn Hosp, Cambridge CB21 5EF, England. RP Catarino, A (reprint author), Univ Cambridge, Dept Psychiat, Cambridge Intellectual & Dev Disabil Res Grp, Douglas House,18B Trumpington Rd, Cambridge CB2 8AH, England. EM am.catarino@gmail.com FU National Alliance for Autism Research (USA); Medical Research Council (MRC) UK; Fundacao para a Ciencia e Tecnologia (Foundation for Science and Technology), Portugal; Cambridge Australia Trust; National Institute for Health Research (NIHR); Collaborations for Leadership in Applied Health Research and Care (CLAHRC) FX The authors would like to thank Dr Peter Watson for his contribution to the statistical analyses. This study was conducted in association with the NIHR Collaboration in Leadership in Applied Health Research and Care (CLAHRC) for Cambridgeshire and Peterborough NHS Foundation Trust. This study was supported by a grant to HR from the National Alliance for Autism Research (USA). SBC was supported by the Medical Research Council (MRC) UK and the Wellcome Trust during the period of this work. AC was supported by a grant from the Fundacao para a Ciencia e Tecnologia (Foundation for Science and Technology), Portugal. OC was supported by the Cambridge Australia Trust. APW and HR were supported by the National Institute for Health Research (NIHR) Collaborations for Leadership in Applied Health Research and Care (CLAHRC). 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Autism PD JAN 12 PY 2013 VL 4 AR 1 DI 10.1186/2040-2392-4-1 PG 14 WC Genetics & Heredity; Neurosciences SC Genetics & Heredity; Neurosciences & Neurology GA 254TX UT WOS:000327191500001 PM 23311570 ER PT J AU D'Angelo, E Casali, S AF D'Angelo, Egidio Casali, Stefano TI Seeking a unified framework for cerebellar function and dysfunction: from circuit operations to cognition SO FRONTIERS IN NEURAL CIRCUITS LA English DT Review DE cerebellum; cognition; motor control; timing; prediction; autism; schizophrenia; dyslexia ID TRANSCRANIAL MAGNETIC STIMULATION; DORSOLATERAL PREFRONTAL CORTEX; VERBAL WORKING-MEMORY; CEREBRAL-BLOOD-FLOW; POSITRON-EMISSION-TOMOGRAPHY; MAJOR DEPRESSIVE DISORDER; CAUDAL FASTIGIAL NUCLEUS; IMAGINED HAND MOVEMENTS; MEDIAL FRONTAL-CORTEX; DEVELOPMENTAL DYSLEXIA AB Following the fundamental recognition of its involvement in sensory-motor coordination and learning, the cerebellum is now also believed to take part in the processing of cognition and emotion. This hypothesis is recurrent in numerous papers reporting anatomical and functional observations, and it requires an explanation. We argue that a similar circuit structure in all cerebellar areas may carry out various operations using a common computational scheme. On the basis of a broad review of anatomical data, it is conceivable that the different roles of the cerebellum lie in the specific connectivity of the cerebellar modules, with motor, cognitive, and emotional functions (at least partially) segregated into different cerebro-cerebellar loops. We here develop a conceptual and operational framework based on multiple interconnected levels (a meta-levels hypothesis): from cellular/molecular to network mechanisms leading to generation of computational primitives, thence to high-level cognitive/emotional processing, and finally to the sphere of mental function and dysfunction. The main concept explored is that of intimate interplay between timing and learning (reminiscent of the "timing and learning machine" capabilities long attributed to the cerebellum), which reverberates from cellular to circuit mechanisms. Subsequently, integration within large-scale brain loops could generate the disparate cognitive/emotional and mental functions in which the cerebellum has been implicated. We propose, therefore, that the cerebellum operates as a general-purpose co-processor, whose effects depend on the specific brain centers to which individual modules are connected. Abnormal functioning in these loops could eventually contribute to the pathogenesis of major brain pathologies including not just ataxia but also dyslexia, autism, schizophrenia, and depression. C1 [D'Angelo, Egidio; Casali, Stefano] Dept Brain & Behav Sci, I-27100 Pavia, Italy. [D'Angelo, Egidio] IRCCS C Mondino, Brain Connect Ctr, Pavia, Italy. RP D'Angelo, E (reprint author), Dept Brain & Behav Sci, Via Forlanini 6, I-27100 Pavia, Italy. EM dangelo@unipv.it; stefano.casali@unipv.it FU European Union [CEREBNET FP7-ITN238686, REALNET FP7-ICT270434]; Italian Ministry of Health [RF-2008-1143418, RF-2009-1475845] FX This work was supported by the European Union (CEREBNET FP7-ITN238686 and REALNET FP7-ICT270434) and by the Italian Ministry of Health (RF-2008-1143418 and RF-2009-1475845) to Egidio D'Angelo. 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Neural Circuits PD JAN 10 PY 2013 VL 6 AR 116 DI 10.3389/fncir.2012.00116 PG 23 WC Neurosciences SC Neurosciences & Neurology GA 067UL UT WOS:000313320500001 PM 23335884 ER PT J AU Gadow, KD DeVincent, CJ Siegal, VI Olvet, DM Kibria, S Kirsch, SF Hatchwell, E AF Gadow, Kenneth D. DeVincent, Carla J. Siegal, Victoria I. Olvet, Doreen M. Kibria, Saniya Kirsch, Sarah F. Hatchwell, Eli TI Allele-specific associations of 5-HTTLPR/rs25531 with ADHD and autism spectrum disorder SO PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY LA English DT Article DE 5-HTTLPR; Attention-deficit hyperactivity disorder; Autism spectrum disorder; Serotonin; SLC6A4 gene ID SEROTONIN TRANSPORTER GENE; PERVASIVE DEVELOPMENTAL DISORDER; OPPOSITIONAL DEFIANT DISORDER; CHILD SYMPTOM INVENTORY-4; DSM-IV; SCORING ALGORITHMS; POLYMORPHIC REGION; CLINICAL PHENOTYPE; SCHIZOPHRENIA; EXPRESSION AB Background: The aims of the present study were to examine the association between a common serotonin transporter gene (SLC6A4) polymorphism 5-HTTLPR/rs25531 with severity of attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) symptoms. Methods: Mothers and teachers completed a validated DSM-IV-referenced rating scale for ADHD and ASD symptoms in 118 children with ASD. Results: Analyses indicated that children with at least one copy of the S or L-G allele obtained significantly more severe maternal ratings of hyperactivity (p = 0.001; eta p(2) = 0.097) and impulsivity (p = 0.027; eta p(2) = 0.044) but not inattention (p= 0.061; eta p(2) = 0.032), controlling for ASD severity, than children homozygous for the L-A allele. Conversely, mothers' ratings indicated that children with L-A/L-A genotype had more severe ASD social deficits than S or L-G allele carriers (p = 0.003; eta p(2) = 0.081), controlling for ADHD symptom severity. Teachers' ratings though consistent with mothers' ratings of hyperactivity and social deficits were marginally significant (p = 0.07/p = 0.09). There was some evidence that the magnitude of parent-teacher agreement regarding symptom severity varied as a function of the child's genotype. Conclusion: The 5-HTTLPR/rs25531 polymorphism or its correlates may modulate severity of ADHD and ASD symptoms in children with ASD, but in different ways. These tentative, hypothesis-generating findings require replication with larger independent samples. (c) 2012 Elsevier Inc. All rights reserved. C1 [Gadow, Kenneth D.] SUNY Stony Brook, Dept Psychiat & Behav Sci, Stony Brook, NY 11794 USA. [DeVincent, Carla J.] SUNY Stony Brook, Dept Radiol, Stony Brook, NY 11794 USA. [Siegal, Victoria I.; Hatchwell, Eli] SUNY Stony Brook, Dept Pathol, Stony Brook, NY 11794 USA. [Olvet, Doreen M.] Columbia Univ, New York State Psychiat Inst, MIND, New York, NY 10032 USA. [Kibria, Saniya; Kirsch, Sarah F.] SUNY Stony Brook, Sch Med, Stony Brook, NY 11794 USA. RP Gadow, KD (reprint author), SUNY Stony Brook, Dept Psychiat & Behav Sci, Stony Brook, NY 11794 USA. EM kenneth.gadow@stonybrook.edu; carla.devincent@stonybrook.edu; victoria.skaya@gmail.com; do2271@columbia.edu; skibria1@gmail.com; sarah.kirsch1@gmail.com; elihatchwell@gmail.com FU National Institutes of Health (GCRC) [M01RR10710]; National Alliance for Autism Research; Matt and Debra Cody Center for Autism and Developmental Disorders FX This study was supported, in part, by grants from the National Institutes of Health (GCRC grant no. M01RR10710), the National Alliance for Autism Research, the Matt and Debra Cody Center for Autism and Developmental Disorders, and charitable contributions. The authors wish to thank Dr. John Pomeroy for supervision of the clinical diagnoses, Drs. Patricia Whitaker-Azmitia, Efrain Azmitia, and Greg Perlman for their comments on the manuscript, and two anonymous reviewers for their suggestions. 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This study uses an automated cluster analysis to identify acoustically distinct syllable types produced by CBA/CaJ mouse pups, and then compares the results to prior manual classification methods. The cluster analysis identified two syllable types, based on their frequency bands, that have continuous frequency-time structure, and two syllable types featuring abrupt frequency transitions. Although cluster analysis computed fewer syllable types than manual classification, the clusters represented well the probability distributions of the acoustic features within syllables. These probability distributions indicate that some of the manually classified syllable types are not statistically distinct. The characteristics of the four classified clusters were used to generate a Microsoft Excel-based mouse syllable classifier that rapidly categorizes syllables, with over a 90% match, into the syllable types determined by cluster analysis. C1 [Grimsley, Jasmine M. S.; Gadziola, Marie A.; Wenstrup, Jeffrey J.] NE Ohio Med Univ, Dept Anat & Neurobiol, Rootstown, OH 44272 USA. [Gadziola, Marie A.; Wenstrup, Jeffrey J.] Kent State Univ, Sch Biomed Sci, Kent, OH 44242 USA. RP Grimsley, JMS (reprint author), NE Ohio Med Univ, Dept Anat & Neurobiol, 4209 State Route 44,POB 95, Rootstown, OH 44272 USA. EM jgrimsley@neomed.edu FU National Institute on Deafness and Other Communication Disorders [R01 DC00937, DC00937-19S1] FX We would like to thank Shobhana Sivaramakrishnan for the animals used in this study, and Emily Hazlett for her comments on the manuscript. This research was supported by grants from the National Institute on Deafness and Other Communication Disorders R01 DC00937 and DC00937-19S1. 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Behav. Neurosci. PD JAN 9 PY 2013 VL 6 AR 89 DI 10.3389/fnbeh.2012.00089 PG 12 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA 084FB UT WOS:000314522000001 ER PT J AU Freeth, M Foulsham, T Kingstone, A AF Freeth, Megan Foulsham, Tom Kingstone, Alan TI What Affects Social Attention? Social Presence, Eye Contact and Autistic Traits SO PLOS ONE LA English DT Article ID SPECTRUM DISORDERS; FUNCTIONING AUTISM; VISUAL INFORMATION; GAZE ALLOCATION; PATTERNS; CONVERSATION; ENVIRONMENT; PERCEPTION; MOVEMENTS; COGNITION AB Social understanding is facilitated by effectively attending to other people and the subtle social cues they generate. In order to more fully appreciate the nature of social attention and what drives people to attend to social aspects of the world, one must investigate the factors that influence social attention. This is especially important when attempting to create models of disordered social attention, e.g. a model of social attention in autism. Here we analysed participants' viewing behaviour during one-to-one social interactions with an experimenter. Interactions were conducted either live or via video (social presence manipulation). The participant was asked and then required to answer questions. Experimenter eye-contact was either direct or averted. Additionally, the influence of participant self-reported autistic traits was also investigated. We found that regardless of whether the interaction was conducted live or via a video, participants frequently looked at the experimenter's face, and they did this more often when being asked a question than when answering. Critical differences in social attention between the live and video interactions were also observed. Modifications of experimenter eye contact influenced participants' eye movements in the live interaction only; and increased autistic traits were associated with less looking at the experimenter for video interactions only. We conclude that analysing patterns of eye-movements in response to strictly controlled video stimuli and natural real-world stimuli furthers the field's understanding of the factors that influence social attention. C1 [Freeth, Megan] Univ Sheffield, Dept Psychol, Sheffield S10 2TN, S Yorkshire, England. [Foulsham, Tom] Univ Essex, Dept Psychol, Colchester CO4 3SQ, Essex, England. [Kingstone, Alan] Univ British Columbia, Dept Psychol, Vancouver, BC V5Z 1M9, Canada. RP Freeth, M (reprint author), Univ Sheffield, Dept Psychol, Sheffield S10 2TN, S Yorkshire, England. EM m.freeth@sheffield.ac.uk FU Economic and Social Research Council [PTA-026-27-2283]; Wellcome Trust VIP award; Leverhulme Early Career Fellowship [ECF/2010/0592]; Commonwealth Fellowship from the Government of Canada; Natural Sciences and Engineering Research Council of Canada (NSERC) operating grant FX MF was supported by Economic and Social Research Council (PTA-026-27-2283), a Wellcome Trust VIP award and a Leverhulme Early Career Fellowship (ECF/2010/0592). TF was supported by a Commonwealth Fellowship from the Government of Canada. AK was supported by a Natural Sciences and Engineering Research Council of Canada (NSERC) operating grant. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Ilie, Alina E. Sizdahkhani, Saman Das Gupta, Micaela Orlowski, John McKinney, R. Anne TI Enhanced Recruitment of Endosomal Na+/H+ Exchanger NHE6 into Dendritic Spines of Hippocampal Pyramidal Neurons during NMDA Receptor-Dependent Long-Term Potentiation SO JOURNAL OF NEUROSCIENCE LA English DT Article ID LINKED MENTAL-RETARDATION; AMPA RECEPTORS; RECYCLING ENDOSOMES; SYNAPTIC PLASTICITY; GLUTAMATE TRANSPORT; ANGELMAN-SYNDROME; PLASMA-MEMBRANE; ENDOCYTIC ZONES; SLICE CULTURES; SMALL GTPASE AB Postsynaptic endosomal trafficking has emerged as a principal regulatory mechanism of structural and functional plasticity of glutamatergic synapses. Recycling endosomes perform activity-dependent transport of AMPA receptors(AMPARs) and lipids to the postsynaptic membrane, activities that are known to contribute to long-term synaptic potentiation and hypothesized to subserve learning and memory processes in the brain. 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EM john.orlowski@mcgill.ca; anne.mckinney@mcgill.ca FU Canadian Institutes of Health Research [MOP-86724, MOP-11221, MOP-111191]; ARSACS Foundation; Natural Sciences and Engineering Research Council of Canada; McGill Provost's Graduate Fellowship; Le Fonds de la Recherche en Sante de Quebec FX This work was supported by Canadian Institutes of Health Research funding held by R. A. M. (MOP-86724) and J. O. (MOP-11221 and MOP-111191). E. C. D. held a McGill Provost's Graduate Fellowship and received funding from the ARSACS Foundation. M. D. G. received a Natural Sciences and Engineering Research Council of Canada Studentship. R. A. M. held a Le Fonds de la Recherche en Sante de Quebec Senior Salary Bursary during the period of this work. We thank Francois Charron, Philip K.-Y. Chang, David Verbich, Haider Altimini, and Tushare Jinadasa for their technical assistance. 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Thus, modulating the level of BDNF can be a potential therapeutic approach for nervous system pathologies. In the present study, we designed five different tetra peptides (peptides B-1 to B-5) corresponding to different active regions of BDNF. These tetra peptides were found to be non-toxic, and they induced the expression of neuronal markers in mouse embryonic day 18 (E18) primary hippocampal neuronal cultures. Additionally, peptide B-5 induced the expression of BDNF and its receptor, TrkB, suggesting a positive feedback mechanism. The BDNF peptides induced only a moderate activation (phosphorylation at Tyr 706) of the TrkB receptor, which could be blocked by the Trk's inhibitor, K252a. Peptide B-3, when combined with BDNF, potentiated the survival effect of this neurotrophin on H2O2-treated E18 hippocampal cells. Peptides B-3 and B-5 were found to work as partial agonists and as partial antagonists competing with BDNF to activate the TrkB receptor in a dose-dependent manner. Taken together, these results suggest that the described BDNF tetra peptides are neurotrophic, can modulate BDNF signaling in a partial agonist/antagonist way, and offer a novel therapeutic approach to neural pathologies where BDNF levels are dysregulated. C1 [Cardenas-Aguayo, Maria del Carmen; Kazim, Syed Faraz; Grundke-Iqbal, Inge; Iqbal, Khalid] New York State Inst Basic Res Dev Disabil, Dept Neurochem, Staten Isl, NY 10314 USA. [Kazim, Syed Faraz] Suny Downstate Med Ctr, Neural & Behav Sci Grad Program, Brooklyn, NY 11203 USA. RP Iqbal, K (reprint author), New York State Inst Basic Res Dev Disabil, Dept Neurochem, 1050 Forest Hill Rd, Staten Isl, NY 10314 USA. EM khalid.iqbal.ibr@gmail.com FU New York State Office of People with Developmental Disabilities; EVER NeuroPharma GmbH, Unterach, Austria FX Studies described in this article were supported in part by the New York State Office of People with Developmental Disabilities, and a research grant from EVER NeuroPharma GmbH, Unterach, Austria. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Behavioral intervention; Early intervention; Cognitive function; Developmental outcomes ID INTENSIVE BEHAVIORAL INTERVENTION; SOCIAL COMMUNICATION QUESTIONNAIRE; PERVASIVE DEVELOPMENTAL DISORDERS; YOUNG-CHILDREN; STABILITY; CHECKLIST AB Background: Available evidence indicates that early intervention programs, such as the Early Start Denver Model (ESDM), can positively affect key outcomes for children with Autism Spectrum Disorder (ASD). However, programs involving resource intensive one-to-one clinical intervention are not readily available or deliverable in the community, resulting in many children with ASD missing out on evidence-based intervention during their early and most critical preschool years. This study evaluated the effectiveness of the ESDM for preschool-aged children with ASD using a predominantly group-based intervention in a community child care setting. Methods: Participants were 26 children (21 male) with ASD with a mean age of 49.6 months. The ESDM, a comprehensive early intervention program that integrates applied behaviour analysis with developmental and relationship-based approaches, was delivered by trained therapists during the child's attendance at a child care centre for preschool-aged children with ASD. Children received 15-20 hours of group-based, and one hour of one-to-one, ESDM intervention per week. The average intervention period was ten months. Outcome measures were administered pre- and post-intervention, and comprised a developmental assessment - the Mullen Scales of Early Learning (MSEL); and two parent-report questionnaires - the Social Communication Questionnaire (SCQ) and Vineland Adaptive Behaviours Scales-Second Edition (VABS-II). Results: Statistically significant post-intervention improvements were found in children's performance on the visual reception, receptive language and expressive language domains of the MSEL in addition to their overall intellectual functioning, as assessed by standardised developmental quotients. Parents reported significant increases in their child's receptive communication and motor skills on the VABS-II, and a significant decrease in autism-specific features on the SCQ. These effects were of around medium size, and appeared to be in excess of what may have been expected due to maturation. Nonetheless, these results need to be confirmed in a controlled study. Conclusions: This study suggests community dissemination of the ESDM using predominantly group-based intervention may be an effective intervention. Making the ESDM accessible to the wider ASD community in child care settings has the potential for significant clinical and economic benefits. Further studies are indicated in this area, including those with younger children, and which incorporate a control group and standardised ASD assessments. C1 [Eapen, Valsamma; Crncec, Rudi; Walter, Amelia] Acad Unit Child Psychiat, South West Sydney Local Hlth Dist AUCS, Sydney, NSW, Australia. [Eapen, Valsamma; Crncec, Rudi; Walter, Amelia] Univ New S Wales, Sydney, NSW, Australia. RP Eapen, V (reprint author), Acad Unit Child Psychiat, South West Sydney Local Hlth Dist AUCS, Sydney, NSW, Australia. EM v.eapen@unsw.edu.au FU Australian Government; management of KU Children's Services FX KU Marcia Burgess Autism Specific Early Learning Childcare Centre in Liverpool, Australia, was established by KU Children's Services with the University of New South Wales (UNSW) as research partner. The authors would like to thank the staff and families who participated in the project and in particular Elizabeth Fulton who led the implementation of the ESDM curriculum at the centre; Kate Piromalli who assisted in setting up and collecting the data in the initial phase of the study; Warren Ryan for methodological advice; and Dr Roger Blackmore for his assistance with reliability checks and peer support. Prof. Sally Rogers, Dr. Laurie Vismara and Dr. Cynthia Zierhut of the MIND Institute UC Davis provided assistance with ESDM training and peer support. We would like to acknowledge the research funding from the Australian Government and the support provided by the management of KU Children's Services in conducting this research, especially Pam Macrossan. 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PD JAN 7 PY 2013 VL 13 AR 3 DI 10.1186/1471-2431-13-3 PG 9 WC Pediatrics SC Pediatrics GA 129OQ UT WOS:000317851300001 PM 23294523 ER PT J AU Freitag, CM Cholemkery, H Elsuni, L Kroeger, AK Bender, S Kunz, CU Kieser, M AF Freitag, Christine M. Cholemkery, Hannah Elsuni, Leyla Kroeger, Anne K. Bender, Stephan Kunz, Cornelia Ursula Kieser, Meinhard TI The group-based social skills training SOSTA-FRA in children and adolescents with high functioning autism spectrum disorder - study protocol of the randomised, multi-centre controlled SOSTA - net trial SO TRIALS LA English DT Article DE Social skills training; Neural function; Moderating factors; Autism spectrum disorder ID PSYCHIATRIC-DISORDERS; ASPERGERS-SYNDROME; INTERVENTION; POPULATION; PREVALENCE; EFFICACY; LOCF AB Background: Group-based social skills training (SST) has repeatedly been recommended as treatment of choice in high-functioning autism spectrum disorder (HFASD). To date, no sufficiently powered randomised controlled trial has been performed to establish efficacy and safety of SST in children and adolescents with HFASD. In this randomised, multi-centre, controlled trial with 220 children and adolescents with HFASD it is hypothesized, that add-on group-based SST using the 12 weeks manualised SOSTA-FRA program will result in improved social responsiveness (measured by the parent rated social responsiveness scale, SRS) compared to treatment as usual (TAU). It is further expected, that parent and self reported anxiety and depressive symptoms will decline and pro-social behaviour will increase in the treatment group. A neurophysiological study in the Frankfurt HFASD subgroup will be performed pre- and post treatment to assess changes in neural function induced by SST versus TAU. Methods/design: The SOSTA - net trial is designed as a prospective, randomised, multi-centre, controlled trial with two parallel groups. The primary outcome is change in SRS score directly after the intervention and at 3 months follow-up. Several secondary outcome measures are also obtained. The target sample consists of 220 individuals with ASD, included at the six study centres. Discussion: This study is currently one of the largest trials on SST in children and adolescents with HFASD worldwide. Compared to recent randomised controlled studies, our study shows several advantages with regard to in- and exclusion criteria, study methods, and the therapeutic approach chosen, which can be easily implemented in non-university-based clinical settings. C1 [Freitag, Christine M.; Cholemkery, Hannah; Elsuni, Leyla; Kroeger, Anne K.; Bender, Stephan] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany. [Bender, Stephan] Univ Dresden, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-01307 Dresden, Germany. [Kunz, Cornelia Ursula; Kieser, Meinhard] Heidelberg Univ, Inst Med Biometry & Informat, D-69120 Heidelberg, Germany. RP Freitag, CM (reprint author), Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat Psychosomat & Ps, D-60528 Frankfurt, Germany. EM C.Freitag@em.uni-frankfurt.de FU German Research Foundation DFG (Deutsche Forschungsgemeinschaft [FR2069/2-1] FX We thank the study participants and their parents for taking part in the trial. We thoroughly thank all participating centres of the SOSTA-net trial for their ongoing commitment and enthusiasm: Professor Dr Beate Herpertz-Dahlmann, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University Hospital RWTH, Aachen, Germany; Professor Dr Alexander von Gontard, Susann Hanig, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Saarland University Hospital, Homburg/Saar, Germany; Professor Dr Gerd Lehmkuhl, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Klinikum der Universit zu Koln, Cologne, Germany; Dr Louise Poustka, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Central Institute of Mental Health, Mannheim, Germany, and Dr Regina Taurines, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Wuerzburg, Germany. The trial is supported by grant FR2069/2-1 of the German Research Foundation DFG (Deutsche Forschungsgemeinschaft). 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Glasson, Emma J. Nassar, Natasha Jacoby, Peter Pennell, Craig Hagan, Ronald Bourke, Jenny Leonard, Helen Stanley, Fiona J. TI Maternal Conditions and Perinatal Characteristics Associated with Autism Spectrum Disorder and Intellectual Disability SO PLOS ONE LA English DT Article ID URINARY-TRACT-INFECTIONS; MENTAL-RETARDATION; RISK-FACTORS; WESTERN-AUSTRALIA; OBSTETRIC COMPLICATIONS; DEVELOPMENTAL-DISABILITIES; DIAGNOSTIC SUBSTITUTION; HEAD CIRCUMFERENCE; MEDICAL CONDITIONS; POPULATION COHORT AB Background: As well as being highly comorbid conditions, autism spectrum disorders (ASD) and intellectual disability (ID) share a number of clinically-relevant phenomena. This raises questions about similarities and overlap in diagnosis and aetiological pathways that may exist for both conditions. Aims: To examine maternal conditions and perinatal factors for children diagnosed with an ASD, with or without ID, and children with ID of unknown cause, compared with unaffected children. Methods: The study population comprised all live singleton births in Western Australia (WA) between January 1984 and December 1999 (N = 383,153). Univariate and multivariate multinomial logistic regression models were applied using a blocked modelling approach to assess the effect of maternal conditions, sociodemographic factors, labour and delivery characteristics and neonatal outcomes. Results: In univariate analyses mild-moderate ID was associated with pregnancy hypertension, asthma, urinary tract infection, some types of ante-partum haemorrhage, any type of preterm birth, elective C-sections, breech presentation, poor fetal growth and need for resuscitation at birth, with all factors showing an increased risk. Severe ID was positively associated with poor fetal growth and need for resuscitation, as well as any labour or delivery complication. In the multivariate analysis no maternal conditions or perinatal factors were associated with an increased risk of ASD without ID. However, pregnancy hypertension and small head circumference were associated with a reduced risk (OR = 0.64, 95% CI: 0.43, 0.94; OR = 0.58, 95% CI: 0.34, 0.96, respectively). For ASD with ID, threatened abortion before 20 weeks gestation and poor fetal growth were associated with an increased risk. Conclusion: Findings show that indicators of a poor intrauterine environment are associated with an elevated risk of ID, while for ASD, and particularly ASD without ID, the associations are much weaker. As such, these findings highlight the importance of accounting for the absence or presence of ID when examining ASD, if we are to improve our understanding of the causal pathways associated with these conditions. C1 [Langridge, Amanda T.; Glasson, Emma J.; Nassar, Natasha; Jacoby, Peter; Bourke, Jenny; Leonard, Helen; Stanley, Fiona J.] Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia. [Nassar, Natasha] Univ Sydney, Kolling Inst Med Res, Sydney, NSW 2006, Australia. [Hagan, Ronald] Univ Western Australia, Sch Womens & Infants Hlth, Dept Neonatol, Perth, WA 6009, Australia. RP Langridge, AT (reprint author), Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA 6009, Australia. EM amandal@ichr.uwa.edu.au RI Glasson, Emma/H-5339-2013; Leonard, Helen/A-1010-2013 OI Glasson, Emma/0000-0003-3996-9049; Leonard, Helen/0000-0001-6405-5834 FU Australian National Health and Medical Research Council (NHMRC) [572742]; NHMRC [572568, 632955] FX Funding was provided by the Australian National Health and Medical Research Council (NHMRC, http://www.nhmrc.gov.au) Program Grant (572742), NHMRC Research Fellowship (572568 to HL) and NHMRC Career Development Fellowship (632955 to NN). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. 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Morphological studies have revealed a high level of secretin and secretin receptor expression in the PVN. To investigate the direct electrophysiological effects of secretin in the PVN, in vivo extracellular recordings were performed in the present study. In 24 out of the 46 paraventricular neurons, micro-pressure ejection of secretin increased the firing rate from 3.07 +/- 0.43 Hz to 4.86 +/- 0.70 Hz. In another 8 out of the 46 paraventricular neurons, secretin decreased the firing rate from 2.61 +/- 0.46 Hz to 1.41 +/- 0.25 Hz. In the remaining 14 paraventricular neurons, secretin did not alter the firing rate significantly. The present findings provided direct electrophysiological evidence for the possible functions of secretin in the PVN. (C) 2012 Elsevier Ireland Ltd. All rights reserved. C1 [Chen, Xin-Yi] Shandong Univ, Sch Med, Dept Physiol, Jinan 250012, Peoples R China. [Chen, Lei] Qingdao Univ, Dept Physiol, Fac Med, Qingdao 266071, Shandong, Peoples R China. [Wang, Hua] Binzhou Med Coll, Dept Physiol, Binzhou 264000, Peoples R China. RP Chen, L (reprint author), Qingdao Univ, Dept Physiol, Fac Med, Qingdao 266071, Shandong, Peoples R China. EM chenleiqd@163.com FU Undergraduate Science and Technology Innovation Foundation in Shandong University [2011475]; National Natural Science Foundation of China [31070942, 81200872] FX This work was supported by the grants from the Undergraduate Science and Technology Innovation Foundation in Shandong University (No. 2011475) to X.Y. Chen, the National Natural Science Foundation of China (Nos. 31070942 and 81200872). 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[Shinoda, Yo; Furuichi, Teiichi] Tokyo Univ Sci, Dept Appl Biol Sci, Noda, Chiba 2788510, Japan. [Sadakata, Tetsushi; Shinoda, Yo; Furuichi, Teiichi] JST CREST, Kawaguchi, Saitama 3320012, Japan. RP Sadakata, T (reprint author), Gunma Univ, Adv Sci Res Leaders Dev Unit, Gunma 3718511, Japan. EM sadakata-1024@umin.ac.jp; tfuruichi@rs.tus.ac.jp FU Japan Foundation for Neuroscience and Mental Health; Naito Foundation; Narishige Neuroscience Research Foundation; Uehara Memorial Foundation; Yamada Science Foundation; Nakajima Foundation; Mother and Child Health Foundation; NOVARTIS Foundation for the Promotion of Science; Hamaguchi Foundation for the Advancement of Biochemistry, Scientific Research on Innovative Areas "Foundation of Synapse and Neurocircuit Pathology"; Japan Science and Technology Agency (JST; CREST); Japanese Ministry of Education, Culture, Sports, Science and Technology (MEXT) [23110524, 23700454]; Japan Society for the Promotion of Science (JSPS) [23300137, 23240062]; Institute of Physical and Chemical Research (RIKEN); Program to Disseminate Tenure Tracking System of MEXT FX We are grateful to Dr. Charles Yokoyama (RIKEN Brain Science Institute) for help in improving our manuscript. This study was supported by Grants-in-Aid for Scientific Research from Japan Foundation for Neuroscience and Mental Health, the Naito Foundation, the Narishige Neuroscience Research Foundation, the Uehara Memorial Foundation, the Yamada Science Foundation, the Nakajima Foundation, the Mother and Child Health Foundation, the NOVARTIS Foundation for the Promotion of Science, the Hamaguchi Foundation for the Advancement of Biochemistry, Scientific Research on Innovative Areas "Foundation of Synapse and Neurocircuit Pathology", the Japan Science and Technology Agency (JST; CREST), the Japanese Ministry of Education, Culture, Sports, Science and Technology (MEXT; grant numbers 23110524 and 23700454), the Japan Society for the Promotion of Science (JSPS; grant numbers 23300137 and 23240062), the Institute of Physical and Chemical Research (RIKEN); and the Program to Disseminate Tenure Tracking System of MEXT granted to Gunma University. 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Todd, Lynda Carr, Kevin Hooper, Malcolm TI Gluten- and casein-free dietary intervention for autism spectrum conditions SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Review DE autism; brain; gastrointestinal; gluten; casein; diet; intervention; intestinal permeability ID PERVASIVE DEVELOPMENTAL DISORDERS; CELIAC-DISEASE; INTESTINAL PERMEABILITY; GASTROINTESTINAL SYMPTOMS; ASPERGER-SYNDROME; CONTROLLED-TRIAL; YOUNG-CHILDREN; EPILEPSY; BLIND; AGE AB Dietary intervention as a tool for maintaining and improving physical health and wellbeing is a widely researched and discussed topic. Speculation that diet may similarly affect mental health and wellbeing particularly in cases of psychiatric and behavioral symptomatology opens up various avenues for potentially improving quality of life. We examine evidence suggestive that a gluten-free (GF), casein-free (CF), or gluten- and casein-free diet (GFCF) can ameliorate core and peripheral symptoms and improve developmental outcome in some cases of autism spectrum conditions. Although not wholly affirmative, the majority of published studies indicate statistically significant positive changes to symptom presentation following dietary intervention. In particular, changes to areas of communication, attention, and hyperactivity are detailed, despite the presence of various methodological shortcomings. Specific characteristics of best- and non-responders to intervention have not been fully elucidated; neither has the precise mode of action for any universal effect outside of known individual cases of food-related co-morbidity. With the publication of controlled medium- and long-term group studies of a gluten- and casein-free diet alongside more consolidated biological findings potentially linked to intervention, the appearance of a possible diet-related autism phenotype seems to be emerging supportive of a positive dietary effect in some cases. Further debate on whether such dietary intervention should form part of best practice guidelines for autism spectrum conditions (ASCs) and onward representative of an autism dietary-sensitive enteropathy is warranted. C1 [Whiteley, Paul; Shattock, Paul; Todd, Lynda; Carr, Kevin; Hooper, Malcolm] ESPA Res, Robert Luff Lab, Unit Business & Innovat Ctr 133I, Sunderland SR5 2TA, England. [Knivsberg, Ann-Mari] Univ Stavanger, Natl Ctr Reading Educ & Res, Stavanger, Norway. [Reichelt, Karl L.] Univ Oslo, Rikshosp, Med Ctr, Dept Pediat Res, N-0027 Oslo, Norway. RP Whiteley, P (reprint author), ESPA Res, Robert Luff Lab, Unit Business & Innovat Ctr 133I, Sunderland Enterprise Pk, Sunderland SR5 2TA, England. EM paul.whiteley@espa-research.org.uk FU ESPA; Robert Luff Foundation [273810] FX This review was fully funded by ESPA Research using part of a donation from the Robert Luff Foundation(charity number: 273810). The Foundation played no role in the content, formulation or conclusions reached of the manuscript. 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Ko, Jaewon TI MDGAs interact selectively with neuroligin-2 but not other neuroligins to regulate inhibitory synapse development SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE inhibitory synapse formation; synaptic cell adhesion; autism; schizophrenia ID CELL-ADHESION MOLECULES; IMMUNOGLOBULIN SUPERFAMILY; NEUREXIN BINDING; IN-VIVO; NEURONS; COMPLEX; PROTEIN; AUTISM; GENE; SCHIZOPHRENIA AB The MAM domain-containing GPI anchor proteins MDGA1 and MDGA2 are Ig superfamily adhesion molecules composed of six IG domains, a fibronectin III domain, a MAM domain, and a GPI anchor. MDGAs contribute to the radial migration and positioning of a subset of cortical neurons during early neural development. However, MDGAs continue to be expressed in postnatal brain, and their functions during postnatal neural development remain unknown. Here, we demonstrate that MDGAs specifically and with a nanomolar affinity bind to neuroligin-2, a cell-adhesion molecule of inhibitory synapses, but do not bind detectably to neuroligin-1 or neuroligin-3. We observed no cell adhesion between cells expressing neuroligin-2 and MDGA1, suggesting a cis interaction. Importantly, RNAi-mediated knockdown of MDGAs increased the abundance of inhibitory but not excitatory synapses in a neuroligin-2-dependent manner. Conversely, overexpression of MDGA1 decreased the numbers of functional inhibitory synapses. Likewise, coexpression of both MDGA1 and neuroligin-2 reduced the synaptogenic capacity of neuroligin-2 in an artificial synapse-formation assay by abolishing the ability of neuroligin-2 to form an adhesion complex with neurexins. Taken together, our data suggest that MDGAs inhibit the activity of neuroligin-2 in controlling the function of inhibitory synapses and that MDGAs do so by binding to neuroligin-2. C1 [Lee, Kangduk; Kim, Yoonji; Ko, Jaewon] Yonsei Univ, Coll Life Sci & Biotechnol, Dept Biochem, Seoul 120749, South Korea. [Lee, Sung-Jin; Suedhof, Thomas C.] Stanford Univ, Sch Med, Dept Mol & Cellular Physiol, Stanford, CA 94305 USA. [Suedhof, Thomas C.] Stanford Univ, Sch Med, Howard Hughes Med Inst, Stanford, CA 94305 USA. [Qiang, Yuan; Je, H. Shawn] DUKE Natl Univ Singapore Grad Med Sch, Program Neurosci & Behav Disorders, Singapore 169857, Singapore. [Lee, Dongmin; Lee, Hyun Woo; Kim, Hyun] Korea Univ, Coll Med, Dept Anat & Neurosci, Seoul 136705, South Korea. [Je, H. Shawn] Natl Univ Singapore, Dept Physiol, Singapore 117597, Singapore. RP Ko, J (reprint author), Yonsei Univ, Coll Life Sci & Biotechnol, Dept Biochem, Seoul 120749, South Korea. EM jaewonko@yonsei.ac.kr FU TJ Park Junior Faculty Fellowship from the POSCO TJ Foundation; National Research Foundation of Korea [2011-0028337]; Simons Foundation [177850]; Singapore National Medical Research Council; Singapore Ministry of Education; Korea Science and Engineering Foundation [2012-0005820] FX We thank Drs. Eunjoon Kim (KAIST, Korea) and Dennis O'Leary (The Salk Institute) for the kind gifts of reagents and Dr. Ji Won Um (Yale University) for the critical comments on the manuscript. This work was supported by a TJ Park Junior Faculty Fellowship from the POSCO TJ Foundation (to J.K.) and by Grant 2011-0028337 from the National Research Foundation of Korea (to J.K.), Grant 177850 from the Simons Foundation (to T. C. S.), grants from the Singapore National Medical Research Council (to H.S.J.) and from the Singapore Ministry of Education (to H.S.J.), and Grant 2012-0005820 from the Korea Science and Engineering Foundation (to H.K.). 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PY 2013 VL 28 IS 1 BP 64 EP 77 DI 10.1080/08856257.2012.743729 PG 14 WC Education, Special SC Education & Educational Research GA AR5AO UT WOS:000343597700005 ER PT J AU Kemp, S Petriwskyj, A Shakespeare-Finch, J Thorpe, K AF Kemp, Steven Petriwskyj, Anne Shakespeare-Finch, Jane Thorpe, Karen TI What if you're really different? Case studies of children with high functioning Autism participating in the Get REAL programme who had atypical learning trajectories SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION LA English DT Article DE co-morbidity; experiential learning; high functioning; autism; ASD; group social skills; behaviour ID SOCIAL-SKILLS INTERVENTIONS; SPECTRUM DISORDERS; ASPERGER-SYNDROME; CONTROLLED-TRIAL; DIFFICULTIES-QUESTIONNAIRE; ANXIETY DISORDERS; THERAPY; ADOLESCENTS; STRENGTHS; SAMPLE AB Evaluation of the Get REAL programme in an inclusive primary school setting has indicated its effectiveness in promoting pro-social behaviour for children with high functioning Autism. However, two children with co-morbid diagnoses and complex personal circumstances showed less consistent improvements. In order to explain their unique trajectories, not readily derived from quantitative studies, an exploratory case study approach was used to examine contextual influences on patterns of progress. Multiple data sources included coded video footage from the Get REAL programme, school reports on conduct, and parents and classroom teacher reports using the Strengths and Difficulties Questionnaire. While results provide support for the efficacy of the Get REAL programme for the two children, they also highlight the value of co-ordinated strategies and collaborative individualised approaches in more complex cases. This paper outlines the Get REAL intervention and a range of other school and support agency strategies impacting progress. C1 [Kemp, Steven; Shakespeare-Finch, Jane; Thorpe, Karen] Queensland Univ Technol, Sch Psychol & Counselling, Fac Hlth, Inst Hlth & Biomed Innovat, Brisbane, Qld 4001, Australia. [Petriwskyj, Anne] Queensland Univ Technol, Fac Educ, Sch Early Childhood, Brisbane, Qld 4001, Australia. RP Shakespeare-Finch, J (reprint author), Queensland Univ Technol, Sch Psychol & Counselling, Fac Hlth, Inst Hlth & Biomed Innovat, Brisbane, Qld 4001, Australia. 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M., 2007, J CONTEMP PSYCHOTHER, V37, P133, DOI 10.1007/s10879-007-9048-y Thomeer M., 2006, FOCUS AUTISM OTHER D, V21, P237, DOI DOI 10.1177/10883576060210040501 White SW, 2010, CLIN CHILD FAM PSYCH, V13, P77, DOI 10.1007/s10567-009-0062-3 White SW, 2010, FOCUS AUTISM DEV DIS, V25, P209, DOI 10.1177/1088357610380595 Williams White S., 2006, J AUTISM DEV DISORD, V37, P1858, DOI [10.1007/s10803-006-0320-x, DOI 10.1007/S10803-006-0320-X] Wood JJ, 2009, J CHILD PSYCHOL PSYC, V50, P224, DOI 10.1111/j.1469-7610.2008.01948.x NR 35 TC 0 Z9 0 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND SN 0885-6257 EI 1469-591X J9 EUR J SPEC NEEDS EDU JI Eur. J. Spec. Needs Educ. PY 2013 VL 28 IS 1 BP 91 EP 108 DI 10.1080/08856257.2012.749609 PG 18 WC Education, Special SC Education & Educational Research GA AR5AO UT WOS:000343597700007 ER PT J AU Linton, AC Germundsson, P Heimann, M Danermark, B AF Linton, Ann-Charlotte Germundsson, Per Heimann, Mikael Danermark, Berth TI Teachers' social representation of students with Asperger diagnosis SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION LA English DT Article DE Asperger diagnosis; mainstream teachers; drop-out; social representations; inclusion ID SPECIAL-EDUCATION; CHILDREN; GENDER; SPECTRUM; BEHAVIOR; AUTISM; EXPERIENCES; DISORDERS; VIEWS; ADHD AB While progress has been made for including students with disability into mainstream schools, trends point to problems for students with Asperger syndrome (AS) diagnosis who have a propensity to dropping out of school. Teachers' perceptions and understanding of AS will affect expectations and the attainment of educational targets. Thus, to avoid barriers to students' learning and participation, there is a need to shed light on teachers' perceptions and beliefs that bear on teachers educational provision for students with AS. The aim of the study was therefore to elucidate mainstream teachers' representations of students with AS by using the theoretical framework of Social Representation Theory and particularly looking at the effects of the sex of the teacher, grade level being taught and when the teachers received training themselves. Teachers in mainstream schools in Sweden were invited to complete a web-based questionnaire (N = 170). Data were collected through an association task where the participants were asked to produce up to five words or phrases for the stimulus phrase 'student with Asperger diagnosis'. The data were analysed through categorisation. We found that two-thirds of the macro-categories of mentions relate to 'disabling aspects', 'individual needs' and 'individual characteristics', while a third of the elements were tied to the environment and educational provision. Our results suggest that a medical approach dominates especially earlier trained teachers; however, there is a tendency to view the school environment as increasingly important. Representations about the disabling aspects decreased with the increase in the grades being taught, whereas the educational aspects increase with the increase in grades. Male teachers are more prone to relate to environmental aspects and educational provision while female teachers more often relate to needs and disability. We conclude that teachers tend to view AS from a medical approach but that the school environment is seen as increasingly important. C1 [Linton, Ann-Charlotte] Linkoping Univ, Swedish Inst Disabil Res, Linkoping, Sweden. [Germundsson, Per] Malmo Univ, Dept Hlth & Welf Studies, Malmo, Sweden. [Linton, Ann-Charlotte; Heimann, Mikael] Linkoping Univ, Dept Behav Sci & Learning, Linkoping, Sweden. [Danermark, Berth] Univ Orebro, Swedish Inst Disabil Res, SE-70182 Orebro, Sweden. RP Linton, AC (reprint author), Linkoping Univ, Swedish Inst Disabil Res, Linkoping, Sweden. EM ann-charlotte.linton@oru.se CR Abikoff HB, 2002, J ABNORM CHILD PSYCH, V30, P349, DOI 10.1023/A:1015713807297 Abric J.-C., 2003, METHODES ETUDE REPRE Abric J.-C., 2001, REPRESENTATIONS SOCI, P42 Alves-Mazzotti A., 2011, ED PROFESSIONALIZATI, P136 American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Avramidis E., 2002, EUROPEAN J SPECIAL N, V17, P129, DOI DOI 10.1080/08856250210129056 Baron-Cohen S, 2009, BRIT J PSYCHIAT, V194, P500, DOI 10.1192/bjp.bp.108.059345 Batten A., 2005, IMPROVING SCH, V8, P93, DOI DOI 10.1177/1365480205049341 Brewin BJ, 2008, FOCUS AUTISM DEV DIS, V23, P242, DOI 10.1177/1088357608322997 Chitiyo M., 2011, J RES SPECIAL ED NEE, V11, P70, DOI 10.1111/j.1471-3802.2010.01181.x Coles EK, 2012, J ATTEN DISORD, V16, P101, DOI 10.1177/1087054710381481 Demetriou H, 2009, EDUC STUD, V35, P449, DOI 10.1080/03055690902876552 Doise W., 1992, B PSYCHOL, V45, P405 Dworzynski K, 2012, J AM ACAD CHILD PSY, V51, P788, DOI 10.1016/j.jaac.2012.05.018 Englund U., EUROPEAN J SOCIAL WO Eriksson A., 2009, THESIS GOTHENBURG U Farrell P., 2009, EUROPEAN J SPECIAL N, V24, P407 Frederickson A., 2010, J RES SPECIAL ED NEE, V10, P63 Germundsson P., 2011, LARARE SOCIALSEKRETE Haase M, 2008, BRIT J SOCIOL EDUC, V29, P597, DOI 10.1080/01425690802423270 Harvey A., 2000, INCLUSION AUTISM IS Hattie J, 2012, VISIBLE LEARNING TEA Howarth C, 2006, BRIT J SOC PSYCHOL, V45, P65, DOI 10.1348/014466605X43777 Humphrey N, 2008, AUTISM, V12, P23, DOI 10.1177/1362361307085267 Humphrey N., 2008, J RES SPECIAL ED NEE, V8, P132 Huws JC, 2011, BRIT J LEARN DISABIL, V39, P98, DOI 10.1111/j.1468-3156.2010.00624.x Isaksson J., 2007, EUROPEAN J SPECIAL N, V22, P75, DOI 10.1080/08856250601082323 Jerlinder K, 2010, EUROPEAN J SPECIAL N, V25, P45, DOI 10.1080/08856250903450830 JONES MG, 1990, J RES SCI TEACH, V27, P861, DOI 10.1002/tea.3660270906 Jordan R, 2005, Pediatr Rehabil, V8, P104 JOVCHELOVITCH S., 2007, KNOWLEDGE CONTEXT RE Martino WJ, 2008, CURRICULUM INQ, V38, P189, DOI 10.1111/j.1467-873X.2007.00405.x MCINTYRE LL, 1990, J EDUC RES, V83, P166 Moliner P., 2002, REPRESENTATIONS SOCI Moores-Abdool W., 2010, ISSUES TEACHER ED, V19, P153 Moscovici S, 2000, SOCIAL REPRESENTATIO Myles BS, 2003, CHILD ADOL PSYCH CL, V12, P123, DOI 10.1016/S1056-4993(02)00048-2 Parsons S, 2010, INT J INCLUSIVE EDUC, V14, P67, DOI 10.1080/13603110802504135 Parsons S., 2011, EUROPEAN J SPECIAL N, V26, P47, DOI 10.1080/08856257.2011.543532 Pisula E, 2012, SCHOOL PSYCHOL INT, V33, P185, DOI 10.1177/0143034311415784 Ratinaud P., 2012, LANGAGES, V3, P93 RITTER DR, 1989, EXCEPT CHILDREN, V55, P559 Sciutto M, 2012, FOCUS AUTISM DEV DIS, V27, P177, DOI 10.1177/1088357612450511 Smith W. G., 2008, ED501717 SOU, 1999, 199963 SOU MIN ED Sousa C. P., 2011, ED PROFESSIONALIZATI, P68 Swedish National Agency for Education, 2009, SKOL ASP SYNDR ERF F Swedish National Agency for Education, 2008, RATT TILL UTB EL SOM Tapper K, 2000, AGGRESSIVE BEHAV, V26, P442, DOI 10.1002/1098-2337(200011)26:6<442::AID-AB3>3.0.CO;2-C Thomas G., 2007, DECONSTRUCTING SPECI Tideman M., 2004, STORA UTMANINGEN ATT UNESCO, 1994, AD WORLD C SPEC NEED Vialle W., 2000, HDB CHILD DEV Wagner W., 1999, ASIAN J SOC PSYCHOL, V2, P95, DOI [10.1111/1467-839X.00028, DOI 10.1111/1467-839X.00028] Wehmeyer M. L., 2006, SAGE HDB GENDER ED, P392 Whannell R., 2011, AUSTR J TEACHER ED, V36, P22 WING L, 1981, PSYCHOL MED, V11, P115 NR 57 TC 0 Z9 0 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND SN 0885-6257 EI 1469-591X J9 EUR J SPEC NEEDS EDU JI Eur. J. Spec. Needs Educ. PY 2013 VL 28 IS 4 BP 392 EP 412 DI 10.1080/08856257.2013.812404 PG 21 WC Education, Special SC Education & Educational Research GA AR5BH UT WOS:000343599600002 ER PT J AU Seale, J AF Seale, Jane TI Touching the future of technology for autism: lessons from the HANDS project SO EUROPEAN JOURNAL OF SPECIAL NEEDS EDUCATION LA English DT Book Review C1 [Seale, Jane] Univ Exeter, Grad Sch Educ, Exeter, Devon, England. RP Seale, J (reprint author), Univ Exeter, Grad Sch Educ, Exeter, Devon, England. EM j.seale@exeter.ac.uk CR Mintz J, 2012, AMB INTELL SMART ENV, V15, P1 NR 1 TC 0 Z9 0 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND SN 0885-6257 EI 1469-591X J9 EUR J SPEC NEEDS EDU JI Eur. J. Spec. Needs Educ. PY 2013 VL 28 IS 4 BP 525 EP 528 DI 10.1080/08856257.2013.844557 PG 6 WC Education, Special SC Education & Educational Research GA AR5BH UT WOS:000343599600012 ER PT J AU Fallon, C Edwards, C AF Fallon, Catherine Edwards, Carl TI The confidence factor: a practical resource for use with pupils with special educational needs including autism spectrum disorders aged 11-16 SO SEX EDUCATION-SEXUALITY SOCIETY AND LEARNING LA English DT Book Review C1 [Fallon, Catherine] Canterbury Christ Church Univ, Canterbury, Kent, England. [Edwards, Carl] Riverside Special Sch, Orpington, England. RP Fallon, C (reprint author), Canterbury Christ Church Univ, Canterbury, Kent, England. EM Catherine.Fallon@canterbury.ac.uk; Carl.Edwards@riverside.bromley.sch.uk CR DUIGAN S, 2010, CONFIDENCE FACTOR PR NR 1 TC 0 Z9 0 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXFORDSHIRE, ENGLAND SN 1468-1811 EI 1472-0825 J9 SEX EDUC-SEX SOC LEA JI Sex Educ.-Sex. Soc. Learn. PY 2013 VL 13 IS 1 BP 117 EP 118 DI 10.1080/14681811.2011.649990 PG 2 WC Education & Educational Research; Public, Environmental & Occupational Health SC Education & Educational Research; Public, Environmental & Occupational Health GA AR6QQ UT WOS:000343708400010 ER PT J AU de Villiers, J Myers, B Stainton, RJ AF de Villiers, Jessica Myers, Brooke Stainton, Robert J. TI Revisiting pragmatic abilities in autism spectrum disorders A follow-up study with controls SO PRAGMATICS & COGNITION LA English DT Article DE autism spectrum disorder; pragmatics; pragmatic determinants of literal content ID HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; ASPERGER-SYNDROME; LANGUAGE; CHILDREN; DISCOURSE; ADULTS; COMMUNICATION; INDIVIDUALS; BEHAVIOR AB In a 2007 paper, we argued that speakers with Autism Spectrum Disorders (ASDs) exhibit pragmatic abilities which are surprising given the usual understanding of communication in that group. That is, it is commonly reported that people diagnosed with an ASD have trouble with metaphor, irony, conversational implicature and other non-literal language. This is not a matter of trouble with knowledge and application of rules of grammar. The difficulties lie, rather, in successful communicative interaction. Though we did find pragmatic errors within literal talk, the transcribed conversations we studied showed many, many successes. A second paper reinforced our finding of a general level of success (de Villiers, Myers, and Stainton 2012). It considered differences within the class of pragmatically-inflected yet literal speech acts. The present paper carries our project forward. It overcomes some of the methodological limitations of the second paper, by increasing sample size, and looking at frequency of use rather than just seeming errors. It also includes a control sample. The emerging results are two-fold. On the one hand, there was a slight, statistically significant difference in frequency of use between our participants and the controls in four subcategories: indexicals, possessives, polysemy and degree on a scale. In all four, the participants diagnosed with ASDs had fewer occurrences overall, relative to controls. On the other hand, there was no significant difference in error rates between ASDs and controls - not in any of the eight categories of pragmatic determinants of literal content that we coded for. The upshot is that, though there were less-preferred forms for participants with ASDs, they do very well indeed with pragmatic determinants of literal content. C1 [de Villiers, Jessica] Univ British Columbia, Dept English, Vancouver, BC V6T 1Z1, Canada. [Myers, Brooke] Univ British Columbia, Dept Educ & Counselling Psychol, Vancouver, BC V6T 1Z4, Canada. [Stainton, Robert J.] Univ Western Ontario, Dept Philosophy, London, ON N6A 5B8, Canada. RP de Villiers, J (reprint author), Univ British Columbia, Dept English, 397-1873 East Mall, Vancouver, BC V6T 1Z1, Canada. 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Just like any other cognitive ability, people engage in reasoning about other minds when it seems useful for achieving particular goals, but this ability remains disengaged otherwise. We suggest that understanding the factors that engage our ability to reason about the minds of others helps to explain anthropomorphism: cases in which people attribute minds to a wide range of nonhuman agents, including animals, mechanical and technological objects, and supernatural entities such as God. We suggest that engagement is guided by two basic motivations: (1) the motivation to explain and predict others' actions, and (2) the motivation to connect socially with others. When present, these motivational forces can lead people to attribute minds to almost any agent. When absent, the likelihood of attributing a mind to others, even other human beings, decreases. 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PY 2013 VL 6 IS 2 SI SI BP 74 EP 105 DI 10.1080/19315864.2012.715724 PG 32 WC Education, Special; Psychiatry; Rehabilitation SC Education & Educational Research; Psychiatry; Rehabilitation GA AM2FE UT WOS:000339664200002 ER PT J AU Lunsky, Y Lake, JK Balogh, R Weiss, J Morris, S AF Lunsky, Yona Lake, Johanna K. Balogh, Robert Weiss, Jonathan Morris, Susan TI A Review of Canadian Mental Health Research on Intellectual and Developmental Disabilities SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES LA English DT Article DE Canada; mental health; intellectual disability; psychiatric disorder; mental health services ID AUTISM SPECTRUM DISORDERS; INTENSIVE BEHAVIORAL INTERVENTION; ONTARIO PSYCHIATRIC-HOSPITALS; EMERGENCY-DEPARTMENT VISITS; DUAL DIAGNOSIS; CONSENSUS-GUIDELINES; FAMILY ADJUSTMENT; GENERAL SERVICES; INDIVIDUALS; ADULTS AB This article summarizes Canadian research in "dual diagnosis" spanning the past 20 years and places this research within a historical and policy context. Canadian researchers have made important contributions with regard to understanding inpatient and outpatient mental health services, families, autism, specific disorders and behaviors, aboriginal mental health, forensics, and emergencies. 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PY 2013 VL 6 IS 2 SI SI BP 106 EP 126 DI 10.1080/19315864.2012.700685 PG 21 WC Education, Special; Psychiatry; Rehabilitation SC Education & Educational Research; Psychiatry; Rehabilitation GA AM2FE UT WOS:000339664200003 ER PT J AU Torr, J AF Torr, Jennifer TI Intellectual Disability and Mental Ill Health: A View of Australian Research SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES LA English DT Article DE intellectual disabilities; mental health; prevalence; lifespan; psychiatric assessment; psychiatric management; service provision; Australia ID DEVELOPMENTAL BEHAVIOR CHECKLIST; YOUNG-PEOPLE; PSYCHIATRIC-CARE; POPULATION PREVALENCE; EMOTIONAL DISTURBANCE; CHILDREN; PSYCHOPATHOLOGY; DEPRESSION; ADULTS; AUTISM AB This general review situates Australian research within a framework that quantifies and describes mental health needs of the population with intellectual disabilities across the life span, surveys service provision, and develops the evidence base to inform clinicians regarding assessment and management of psychopathology and psychiatric disorder in people with intellectual disabilities. In particular, Australian research has examined the prevalence, nature, associated factors, and trajectory of clinically significant psychopathology from childhood to adulthood. The Developmental Behavior Checklist and a suite of versions, including an adult version, have proven to be robust instruments in identifying and describing psychopathology in people with intellectual disabilities. Australian researchers have also examined aspects of psychiatric assessment in a population with cognitive and communication impairments, which has direct relevance to clinical practice. Surveys and audits of policy, real-life practice, and service structure and provision have identified serious deficiencies in the training of health professionals and the provision of mental health care to people of all ages with intellectual disabilities and mental ill health. 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Ment. Health Res. Intellect. Disabil. PY 2013 VL 6 IS 2 SI SI BP 159 EP 178 DI 10.1080/19315864.2012.700686 PG 20 WC Education, Special; Psychiatry; Rehabilitation SC Education & Educational Research; Psychiatry; Rehabilitation GA AM2FE UT WOS:000339664200005 ER PT J AU Geier, DA Kern, JK Geier, MR AF Geier, David A. Kern, Janet K. Geier, Mark R. TI A Comparison of the Autism Treatment Evaluation Checklist (ATEC) and the Childhood Autism Rating Scale (CARS) for the Quantitative Evaluation of Autism SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES LA English DT Article DE ASD; Asperger's; autistic disorder; PDD-NOS; CARS; ATEC ID BEHAVIOR CHECKLIST; SPECTRUM DISORDERS; CHILDREN; SYMPTOMS; VALIDITY; DIAGNOSIS; DEFICITS AB The purpose of this study was to evaluate scores generated from the Autism Treatment Evaluation Checklist (ATEC), a parent-rated measure, and those derived from professionally completed Childhood Autism Rating Scale (CARS) evaluations. A cohort of 56 participants diagnosed with an autism spectrum disorder was used for the study, and each child was evaluated independently by the parent using the ATEC and a health care professional using the CARS. The Spearman's rank correlation statistic. was used to evaluate the correlation between ATEC and CARS scores. It was observed that there was a significant correlation between total ATEC and CARS scores (rho = .71). Specific domains in the ATEC evaluation significantly correlated with CARS scores. Sensitivity, specificity, and receiver operating characteristic confirmed the association between CARS and ATEC domains. The results help to validate the utility of the parentally completed ATEC in comparison with an established, professional-related measure of autism. C1 [Geier, David A.; Kern, Janet K.] Inst Chron Illnesses Inc, Silver Spring, MD 20905 USA. [Kern, Janet K.] Univ Texas SW Med Ctr Dallas, Dallas, TX 75390 USA. [Geier, Mark R.] ASD Ctr LLC, Silver Spring, MD USA. 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Bellugi, Ursula TI Musicality Correlates With Sociability and Emotionality in Williams Syndrome SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES LA English DT Article DE social-emotionality; musicality; Williams syndrome ID AUTISM SPECTRUM DISORDERS; YOUNG-CHILDREN; INDIVIDUALS; BEHAVIOR; ANXIETY; HYPERSOCIABILITY; RESPONSIVENESS; ADOLESCENTS; PERCEPTION; PHENOTYPE AB Williams syndrome (WS) is a neurogenetic developmental disorder characterized by peaks and valleys of cognitive abilities. One peak that has been understudied is the affinity that many individuals with WS have with music. It remains unknown whether their high levels of musical interest, skill, and expressivity are related to their sociable personality or their verbal intelligence. We examined the relationships between musicality (musical interest, creativity, and expressivity), sociability (social-emotionality, social approach), and language comprehension in WS and typically developing (TD) controls. Findings suggest that emotion-expressivity through music in WS may be linked to sensitivity and responsivity to emotions of others, whereas general interest in music may be related to greater linguistic capacity in TD individuals. Musicality and sociability may be more closely related in WS relative to typical development. Implications for future interventions for this neurodevelopmental condition are discussed. C1 [Ng, Rowena; Bellugi, Ursula] Salk Inst Biol Studies, Cognit Neurosci Lab, La Jolla, CA 92037 USA. [Lai, Philip] San Diego State Univ, Univ Calif San Diego, Joint Doctoral Program Language & Communicat Diso, San Diego, CA 92182 USA. [Levitin, Daniel J.] McGill Univ, Dept Psychol, Montreal, PQ H3A 2T5, Canada. RP Ng, R (reprint author), Salk Inst Biol Studies, Cognit Neurosci Lab, 10010 N Torrey Pines Rd, La Jolla, CA 92037 USA. 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Ment. Health Res. Intellect. Disabil. PY 2013 VL 6 IS 4 BP 268 EP 279 DI 10.1080/19315864.2012.683932 PG 12 WC Education, Special; Psychiatry; Rehabilitation SC Education & Educational Research; Psychiatry; Rehabilitation GA AM2WP UT WOS:000339712100002 ER PT J AU Babic, MM Franc, I Leutar, Z AF Babic, Marina Milic Franc, Iva Leutar, Zdravka TI EARLY INTERVENTION EXPERIENCES OF PARENTS OF CHILDREN WITH DEVELOPMENTAL DISABILITIES SO LJETOPIS SOCIJALNOG RADA LA Croatian DT Article DE early intervention; children with developmental disabilities; family; social work ID FAMILIES; PERSPECTIVE; AUTISM AB Early intervention as a mode of support to children and families in early years of a child's life is aimed at enhancing the child's development. In addition to being focused on the child, early intervention also functions as a support to family members. The aim of this paper is to explore experiences of parents of children with developmental disabilities with the early intervention process. The conducted qualitative research included parents of children with developmental disabilities (N=13). Research results indicate which areas parents see as important for a successful early intervention and they include an interdisciplinary approach, competence and motivation of professionals and cooperation with families. Parents have identified the following disadvantages within the system: the lack of timely support and information, unprofessionalism and organisational difficulties. Parents describe social work in early intervention through experiences marked with parents' dissatisfaction with obtained information, i.e. relationship with professionals and the organisation of work. However, parents recognise the importance of the involvement of social work in the early intervention system and they describe the role of social workers as coordinators of the early support, providers of information and counsellors. Obtained findings may serve as guidelines for improving the existing early intervention system and for actualisation of the social work profession, the active participation of which can contribute to the improvement of early intervention for children and families. C1 [Babic, Marina Milic; Franc, Iva; Leutar, Zdravka] Univ Zagreb, Fac Law, Dept Social Work, Zagreb 41000, Croatia. RP Babic, MM (reprint author), Univ Zagreb, Fac Law, Dept Social Work, Zagreb 41000, Croatia. EM marina.milic.babic@pravo.hr; avifranc@gmail.com; zdravka.leutar@pravo.hr CR Alisauskiene S., 2009, BE PROFESSIONAL EARL Alliston L., 2007, PRINCIPLES PRACTICES Ammerman R., 1997, HDB PREVENTION TREAT, P157 Bailey D. B., 2006, J EARLY INTERVENTION, V28, P226 Bailey D. B., 2004, PEDIATRICS, V4, P886 Bailey D. 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D., 2010, J TEACHER ED DIVISIO, V33, P131 Spiker D, 2005, INT ISSUE EARLY INTE, P305 Spittle A. J., 2012, EARLY DEV INTERVENTI Turnbull A. P., 2011, J EARLY INTERVENTION, V33, P200 Vuksan Perovic V., 2013, ISKUSTVA SOCIJALNIH NR 59 TC 0 Z9 0 PU UNIV ZAGREB FAC LAW DEPT SOCIAL WORK PI ZAGREB PA NAZOROVA 51, ZAGREB, 10000, CROATIA SN 1846-5412 J9 LJETOP SOC RADA JI Ljetop. Soc. Rada PY 2013 VL 20 IS 3 BP 453 EP 480 PG 28 WC Social Work SC Social Work GA AM3UW UT WOS:000339779300006 ER PT J AU Horovitz, M Matson, JL Hattier, MA Tureck, K Bamburg, JW AF Horovitz, Max Matson, Johnny L. Hattier, Megan A. Tureck, Kimberly Bamburg, Jay W. TI Challenging Behaviors in Adults With Intellectual Disability: The Effects of Race and Autism Spectrum Disorders SO JOURNAL OF MENTAL HEALTH RESEARCH IN INTELLECTUAL DISABILITIES LA English DT Article DE race; ethnicity; challenging behaviors; autism spectrum disorders; ASD-BPA; intellectual disability ID PERVASIVE DEVELOPMENTAL DISORDER; PDD-NOS; TOTAL POPULATION; YOUNG-CHILDREN; RISK-FACTORS; PREVALENCE; INFANTS; DIAGNOSIS; PSYCHOPATHOLOGY; STEREOTYPIES AB Rates of challenging behaviors were assessed in 175 adults with intellectual disability (ID) or ID and a comorbid autism spectrum disorder (ASD). The relationship between ASD diagnosis, race, and challenging behaviors was assessed using the Autism Spectrum Disorders-Behavior Problems for Adults (ASD-BPA). Those with ASD and ID were found to exhibit significantly more challenging behaviors than those with ID alone. No significant main effect of race was found. However, a significant interaction between ASD diagnosis and race was found: In those with ASD, Caucasian participants exhibited more challenging behaviors than African Americans, whereas the opposite held true in those without ASD. Specific subscales of the ASD-BPA were also examined, with a significant interaction found on the Stereotypy subscale. Results and their implications are discussed. C1 [Horovitz, Max; Matson, Johnny L.; Hattier, Megan A.; Tureck, Kimberly] Louisiana State Univ, Dept Psychol, Baton Rouge, LA 70803 USA. [Bamburg, Jay W.] Pinecrest Supports & Serv Ctr, Pineville, LA USA. RP Matson, JL (reprint author), Louisiana State Univ, Dept Psychol, 234 Audubon Hall, Baton Rouge, LA 70803 USA. 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Asperger-Syndrome is rarely reported in adult ADHD and commonly little attention is paid to this possible comorbidity. Subjects and methods: We investigated 53 adult ADHD-patients which visited our out patient clinic for first ADHD-diagnosis ( 17 females, 36 males; range of age: 18-56 years) for the frequency of a comorbid Asperger-Syndrome. Diagnosis of this autism-spectrum disorder was confirmed by applying the appropriate DSM-IV-criteria. Additionally we tested the power of the two screening-instruments "Autism-spectrum quotient" (AQ) and "Empathy quotient" (EQ) by Baron-Cohen for screening Asperger-Syndrome in adult ADHD. Results: Eight ADHD-patients were diagnosed with a comorbid Asperger-Syndrome (15.1%). The difference in AQ- and EQ-scores between pure ADHD-patients and comorbid patients was analysed, showing significantly higher scores in AQ and significant lower scores in EQ in comorbid patients. 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TI Phase II and III drugs for the treatment of fragile X syndrome SO EXPERT OPINION ON ORPHAN DRUGS LA English DT Review DE autism; FMRP; fragile X syndrome; GABA; GABA receptor agonists; glutamate; group 1 metabotropic glutamate receptors; intellectual disability; mGluR2/3 agonists; mGluR5 antagonists; NMDAR partial agonists; oxytocin; synaptic plasticity ID MENTAL-RETARDATION PROTEIN; FOLIC-ACID TREATMENT; SITE PARTIAL AGONIST; SHORT-TERM-MEMORY; FMR1 KO MICE; MOUSE MODEL; DOUBLE-BLIND; METABOTROPIC GLUTAMATE; TREMOR/ATAXIA SYNDROME; MINOCYCLINE TREATMENT AB Introduction: Fragile X syndrome (FXS), the most common inherited form of intellectual disability and autism, is caused by expansion of CGG trinucleotide repeats in FMR1 and marked reduction or absence of the gene product, FMRP. FMRP suppresses synaptic protein synthesis resulting from group 1 metabotropic glutamate receptor (mGluR) activation, a process critical to normal synaptic plasticity. FXS can be characterized as a disorder of synaptic plasticity with physical, cognitive and behavioral manifestations attributable to, at least in part, excessive mGluR activity and downstream effects. Areas covered: This paper reviews the 'mGluR theory' of FXS and the targeted drugs investigated in Phase II and III trials based on this theory of pathogenesis. A literature review was conducted using the PubMed database with search terms 'fragile X syndrome', 'mGluRs', 'pharmacotherapy' and specific drug-related terms. Other resources were identified by review of relevant reference lists and consultation with experts in the field. Expert opinion: While preclinical trials of targeted drugs in animal models of FXS have been encouraging, more studies are needed to determine clinical efficacy in humans. Challenges to clinical trial design and direction for future drug studies, including consideration of NMDA receptor partial agonists and mGluR2/3 agonists, are discussed. 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Saint-Georges, Catherine Mahdhaoui, Ammar Chetouani, Mohamed Laznik, Marie Christine Muratori, Filippo Adrien, Jean-Louis Cohen, David TI Course of maternal prosodic incitation (motherese) during early development in autism SO INTERACTION STUDIES LA English DT Article DE Autism; motherese; early interaction; computational methods ID EARLY ADOLESCENT OUTCOMES; NON-DEPRIVED ADOPTEES; 4-MONTH-OLD INFANTS; VOCAL BEHAVIOR; FATHER-INFANT; 1ST YEAR; SPEECH; LIFE; RECOGNITION; LANGUAGE AB We examined the course of caregiver (CG) motherese and the course of the infant's response based on home movies from two single cases: a boy with typical development (TD) and a boy with autistic development (AD). We first blindly assessed infant CG interaction using the Observer computer-based coding procedure, then analyzed speech CG production using a computerized algorithm. Finally we fused the two procedures and filtered for co-occurrence. In this exploratory study we found that the course of CG parentese differed based on gender (father vs. mother) and child status (TD vs. AD). The course of an infant's response to CG vocalization differed according to the type of speech (motherese vs. other speech) and child status (TD vs. AD). Mothers spent more time interacting with infants, and fathers appeared to interact with their child preferentially between 12 and 18 months in the TD boy, but not in the AD boy. The TD boy responded equally well to motherese compared to other speech after 1 year of age. For the AD boy, the responses to both types of speech were lower than in the boy with TD and decreased from the second to the third semester. C1 [Cassel, Raquel S.; Saint-Georges, Catherine; Cohen, David] Univ Paris 06, Grp Hosp Pitie Salpetriere, AP HP, Dept Child & Adolescent Psychiat, Paris, France. [Saint-Georges, Catherine; Mahdhaoui, Ammar; Chetouani, Mohamed; Cohen, David] Univ Paris 06, CNRS FRE 2507, Inst Syst Intelligents & Robot, Paris, France. [Laznik, Marie Christine] Assoc Sante Mentale 13eme, Dept Child & Adolescent Psychiat, Paris, France. [Muratori, Filippo] Univ Pisa, Sci Inst Stella Maris, I-56100 Pisa, Italy. [Cassel, Raquel S.; Adrien, Jean-Louis] Univ Paris 05, Inst Psychol, LPPS, EA 4057, Paris, France. RP Cassel, RS (reprint author), Univ Paris 06, Grp Hosp Pitie Salpetriere, AP HP, Dept Child & Adolescent Psychiat, Paris, France. 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Stud. PY 2013 VL 14 IS 3 SI SI BP 480 EP 495 DI 10.1075/is.14.3.08cas PG 16 WC Communication; Linguistics SC Communication; Linguistics GA AK3UY UT WOS:000338351400009 ER PT J AU Buse, M Giuffre, M Martines, M Piro, E Piccione, M Corsello, G AF Buse, Martina Giuffre, Mario Martines, Manuela Piro, Ettore Piccione, Maria Corsello, Giovanni TI 16P11.2 MICRODELETION/MICRODUPLICATION SYNDROME: FURTHER CHARACTERIZATION OF A CRITICAL REGION FOR NEUROPSYCHIATRIC DEVELOPMENT SO ACTA MEDICA MEDITERRANEA LA English DT Article DE 16p11.2; a-CGH; language delay; dysmorphic features ID COMPARATIVE-GENOMIC-HYBRIDIZATION; STRUCTURAL VARIATION; CANDIDATE GENES; ARRAY-CGH; AUTISM; DELETION; MICRODUPLICATION; MICRODELETION; RETARDATION; ASSOCIATION AB Several studies have shown the importance of Copy Number Variations (CNVs) in the etiology of autism spectrum disorders (ASDs). In particular, a CNV of about 550 Kb in 16p11.2 has recently been described in up to 1% of autistic patients. Deletions and mutual duplications of this region have also been associated with neurocognitive abnormalities, impairment in social interaction, language delay, congenital anomalies, minor dysmorphisms, respectively micro- and macrocephaly. We report 4 patients with 16p11.2 microdeletion and one patient with 16p11.2 microduplication. All patients have language delay and dysmorphic features, even if there is no common phenotype. Even in our experience, the identification by array-CGH of cryptic chromosomal abnormalities and de novo pathological CNVs helped us to make a more accurate genotype-phenotype correlation and to establish individualized diagnostic and therapeutic strategies. C1 [Buse, Martina; Giuffre, Mario; Piro, Ettore; Piccione, Maria; Corsello, Giovanni] Univ Palermo, Dipartimento Sci Promoz Salute & Materno Infantil, I-90133 Palermo, Italy. [Martines, Manuela] CRR Malattie Rare AOOR Villa Sofia Cervello Paler, Palermo, Italy. RP Buse, M (reprint author), Via A Giordano 3, I-90127 Palermo, Italy. 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PY 2013 VL 29 IS 2 BP 241 EP 246 PG 6 WC Medicine, General & Internal SC General & Internal Medicine GA AJ8BI UT WOS:000337927100018 ER PT J AU Piro, E Buse, M Sciarrabone, GM Antona, V Martines, M Ballacchino, A Piccione, M Corsello, G AF Piro, Ettore Buse, Martina Sciarrabone, Giustina Maria Antona, Vincenzo Martines, Manuela Ballacchino, Antonella Piccione, Maria Corsello, Giovanni TI COPY NUMBER VARIATIONS IN THE ETIOLOGY OF AUTISM SPECTRUM DISORDERS SO ACTA MEDICA MEDITERRANEA LA English DT Article DE Autism spectrum disorders; a-CGH; genomic variants ID COMPARATIVE-GENOMIC-HYBRIDIZATION; SENSORINEURAL HEARING-LOSS; ARRAY-CGH; CONGENITAL-MALFORMATIONS; DELETION; PREVALENCE; INFANTS; 16P11.2; GENE; MICRODUPLICATION AB Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by qualitative impairment in social interaction and communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. They have a multifactorial etiology, but today different studies are showing the central role of genetics. Different genetic alterations were detected: chromosomal abnormalities, mutations, trinucleotide repeats and copy number variations (CNVs). Several studies identified many CNVs associated with ASDs and possible candidate genes, whose loss or gain could have a key role in the etiopathogenesis of these disorders. In particular, they seem to be involved in neurogenesis, neuronal migration, differentiation and degeneration. We want emphasize that the final phenotype is variable, related not only to the genetic background but also to environmental factors. C1 [Piro, Ettore; Buse, Martina; Sciarrabone, Giustina Maria; Antona, Vincenzo; Piccione, Maria; Corsello, Giovanni] Univ Palermo, Dipartimento Sci Promoz Salute & Materno Infantil, I-90133 Palermo, Italy. [Martines, Manuela] CRR Malattie Rare AOOR Villa Sofia Cervello Paler, Palermo, Italy. [Ballacchino, Antonella] Univ Palermo, Dipartimento Biopatol & Biotecnol Med & Forenzi D, Sez Audiol, I-90133 Palermo, Italy. RP Piccione, M (reprint author), Via A Giordano 3, I-90127 Palermo, Italy. 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PY 2013 VL 29 IS 2 BP 337 EP 342 PG 6 WC Medicine, General & Internal SC General & Internal Medicine GA AJ8BI UT WOS:000337927100037 ER PT J AU Shaffer, C AF Shaffer, Cheryl TI Parenting Stress in Mothers of Preschool-Age Children Recently Diagnosed With Autism Spectrum Disorder: A National Quantitative Study and Implications for Nurses SO JOURNAL OF THE AMERICAN PSYCHIATRIC NURSES ASSOCIATION LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1078-3903 EI 1532-5725 J9 J AM PSYCHIAT NURSES JI J. Am. Psych. Nurses Assoc. PD JAN-FEB PY 2013 VL 19 IS 1 BP 25 EP 25 PG 1 WC Nursing; Psychiatry SC Nursing; Psychiatry GA AJ2QX UT WOS:000337505400049 ER PT S AU Vasquez, K Kuizon, S Junaid, M El Idrissi, A AF Vasquez, Kizzy Kuizon, Salomon Junaid, Mohammed El Idrissi, Abdeslem BE ElIdrissi, A LAmoreaux, WJ TI The Effect of Folic Acid on GABA(A)-B 1 Receptor Subunit SO TAURINE 8, VOL 1: THE NERVOUS SYSTEM, IMMUNE SYSTEM, DIABETES AND THE CARDIOVASCULAR SYSTEM SE Advances in Experimental Medicine and Biology LA English DT Article; Proceedings Paper CT 18th International Taurine Meeting CY APR 07-13, 2012 CL Marrakesh, MOROCCO SP Taisho Pharmaceut Co Ltd ID SERVICES TASK-FORCE; NEURAL-TUBE DEFECTS; SUPPLEMENTATION; PREVENTION AB Autism contains a spectrum of behavioral and cognitive disturbances of childhood development that is manifested by deficits in social interaction, impaired communication, repetitive behavior, and/or restricted interest. Much research has been dedicated to finding the genes that are responsible for autism, but less than 10% of the cases can be attributed to one gene. Autism prevalence has increased in the last decade and there may be environmental components that are leading to this increase. There are reports of disruption of epigenetic mechanisms controlling the regulation of gene expression as probable cause for autism. Folic acid (FA) is prescribed to women during pregnancy, and can cause epigenetic changes. GABAergic pathway is involved in inhibitory neurotransmission in the central nervous system and plays a crucial role during early embryonic development. Autism may entail defect or deregulation of the GABAergic receptor pathway in the brain. Gamma-aminobutyric acid (type A) beta 1 receptor (GABRB1) disruption has been implicated in autism. In the present study, we investigated GABRB1 expression in response to FA supplementation in neuronal cells. Western blot analysis showed GABRB1 protein levels increased in the FA-treated cells in a concentration-dependent manner. FA-dependent increased expression of GABRB1 was further confirmed at the mRNA level using quantitative RT-PCR. These results suggest that epigenetic control of gene expression may affect the expression of GABRB1 and disrupt inhibitory synaptic transmission during embryonic development. C1 [Vasquez, Kizzy; El Idrissi, Abdeslem] CUNY Coll Staten Isl, Dept Biol, Staten Isl, NY 10314 USA. [Vasquez, Kizzy; El Idrissi, Abdeslem] CUNY, Grad Sch, New York, NY USA. [Vasquez, Kizzy; Kuizon, Salomon; Junaid, Mohammed] New York State Inst Basic Res, Dept Struct Neurobiol, Staten Isl, NY 10314 USA. RP Vasquez, K (reprint author), CUNY Coll Staten Isl, Dept Biol, Staten Isl, NY 10314 USA. EM kizzyv@gmail.com FU New York State Office for People with Developmental Disabilities; City University of New York; College of Staten Island; Louis Stokes Alliance for Minority Participation a division of National Science Foundation (NSF) FX This study is supported by funds from the New York State Office for People with Developmental Disabilities, The City University of New York, The College of Staten Island, and Louis Stokes Alliance for Minority Participation a division of National Science Foundation (NSF). Financial assistance to Kizzy Vasquez is gratefully acknowledged. 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PY 2013 VL 775 BP 101 EP 109 DI 10.1007/978-1-4614-6130-2_8 PG 9 WC Biochemistry & Molecular Biology; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Research & Experimental Medicine GA BA7JC UT WOS:000337591500008 PM 23392927 ER PT J AU De Araujo, G Lerner, R Hoffmann, C Laznik, MC AF De Araujo, Gabriela Lerner, Rogerio Hoffmann, Christian Laznik, Marie-Christine TI A STUDY OF THE DEVELOPMENT OF THE BROTHERS AND SISTERS OF AUTISTIC CHILDREN SO PSYCHIATRIE DE L ENFANT LA French DT Article DE Sibling group; Autism; Subject; Development; Psychoanalysis ID SIBLINGS; COMMUNICATION; BEHAVIORS AB This article presents the first conclusions of research whose aim is to study the developmental process of brothers and sisters of autistic children and to analyse the difficulties involved. Our basis is the psychoanalytical hypothesis that a subject constructs himself by means of the instinctual relationship he establishes with the Other. When this instinctual relationship with the Other is not set into place, we can observe a difficulty in the constitution of the subject. Autism is the consequence of the non-installation of this link due to several factors. We suppose that among the siblings of an autistic child, there will be obstacles to the installation of this link. To verify this hypothesis, we use clinical indicators of risk for infantile development (IRDI) and the signs of the Research program on Autism (PREAUT) in order to analyse six clinical cases of brothers and sisters of autistic children. C1 [De Araujo, Gabriela; Hoffmann, Christian] Univ Paris 07, Sorbonne Paris Cite, F-75221 Paris 05, France. [De Araujo, Gabriela; Lerner, Rogerio] Univ Sao Paulo, BR-05508 Sao Paulo, Brazil. RP De Araujo, G (reprint author), Al Casa Branca 799-53G, BR-01408001 Sao Paulo, Brazil. 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W., 1989, PEDIAT PSYCHANALYSE, P285 Yirmiya N, 2006, J CHILD PSYCHOL PSYC, V47, P511, DOI 10.1111/j.1469-7610.2005.01528.x NR 37 TC 0 Z9 0 PU PRESSES UNIV FRANCE PI PARIS CEDEX 14 PA 6 AVENUE REILLE, 75685 PARIS CEDEX 14, FRANCE SN 0079-726X J9 PSYCHIAT ENFANT JI Psychiatr. Enfant PY 2013 VL 56 IS 1 BP 147 EP 173 PG 27 WC Psychiatry SC Psychiatry GA AI7LM UT WOS:000337072100006 ER PT J AU Donville, B AF Donville, Barbara TI THE STRANGE LOOP OF STEREROTYPIES SO PSYCHIATRIE DE L ENFANT LA French DT Article DE Autism; Strange loop; Articulated body; Fragmented body; Imitation; Intentionality; Repetition; Stereotypie; Subjectivity; Temporality AB One of the characteristic traits commonly cited in autism is the stereotypie. In this article, on the basis of the clinical observation of an autistic child who was educated in our care, we will attempt to show that the autistic stereotypic is not a kind of repetition but what Douglas Hofstadter calls a "strange loop". RP Donville, B (reprint author), 7 Rrue Commandant Leandri, F-75015 Paris, France. EM barbara.donville@free.fr CR Badiou Alain, 1988, ETRE EVENEMENT Deleuze G., 1968, DIFFERENCE REPETITIO Hofstadter D., 1985, GODEL ESCHER BACH BR PENROSE LS, 1958, BRIT J PSYCHOL, V49, P31 NR 4 TC 0 Z9 0 PU PRESSES UNIV FRANCE PI PARIS CEDEX 14 PA 6 AVENUE REILLE, 75685 PARIS CEDEX 14, FRANCE SN 0079-726X J9 PSYCHIAT ENFANT JI Psychiatr. Enfant PY 2013 VL 56 IS 1 BP 175 EP 193 PG 19 WC Psychiatry SC Psychiatry GA AI7LM UT WOS:000337072100007 ER PT J AU Miller, L McIntosh, RD AF Miller, L. McIntosh, R. D. TI Visual and proprioceptive cue weighting in children with Developmental Coordination Disorder, Autism Spectrum Disorder and typical development SO I-PERCEPTION LA English DT Meeting Abstract C1 [Miller, L.; McIntosh, R. D.] Univ Edinburgh, Edinburgh EH8 9YL, Midlothian, Scotland. EM L.Miller-8@sms.ed.ac.uk NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 2041-6695 J9 I-PERCEPTION JI I-Perception PY 2013 VL 4 IS 7 BP 486 EP 486 PG 1 WC Psychology, Experimental SC Psychology GA AI0VM UT WOS:000336568300011 ER PT J AU Van de Cruys, S de-Wit, L Evers, K Boets, B Wagemans, J AF Van de Cruys, Sander de-Wit, Lee Evers, Kris Boets, Bart Wagemans, Johan TI Weak priors versus overfitting of predictions in autism: Reply to Pellicano and Burr (TICS, 2012) SO I-PERCEPTION LA English DT Editorial Material DE autism; vision; perception; predictive coding; priors; Bayes ID MISMATCH NEGATIVITY; PERCEPTION; WORLD AB Pellicano and Burr (2012) argue that a Bayesian framework can help us understand the perceptual peculiarities in autism. We agree, but we think that their assumption of uniformly flat or equivocal priors in autism is not empirically supported. Moreover, we argue that any full account has to take into consideration not only the nature of priors in autism, but also how these priors are constructed or learned. We argue that predictive coding provides a more constrained framework that very naturally explains how priors are constructed in autism leading to strong, but overfitted, and non-generalizable predictions. C1 [Van de Cruys, Sander; de-Wit, Lee; Evers, Kris; Boets, Bart; Wagemans, Johan] Univ Louvain, Dept Expt Psychol, Louvain, Belgium. RP Van de Cruys, S (reprint author), Univ Louvain, Dept Expt Psychol, Tiensestr 102, Louvain, Belgium. EM sander.vandecruys@ppw.kuleuven.be; lee.dewit@ppw.kuleuven.be; kris.evers@ppw.kuleuven.be; bart.boets@ppw.kuleuven.be; johan.wagemans@ppw.kuleuven.be RI Van de Cruys, Sander/F-8996-2015 OI Van de Cruys, Sander/0000-0003-4831-7800 CR Brock J, 2012, TRENDS COGN SCI, V16, P573, DOI 10.1016/j.tics.2012.10.005 Ciesielski KT, 1997, CHILD NEUROPSYCHOL, V3, P1, DOI 10.1080/09297049708401364 Dakin S, 2005, NEURON, V48, P497, DOI 10.1016/j.neuron.2005.10.018 Feldman J, 2013, TOP COGN SCI, V5, P13, DOI 10.1111/tops.12003 Ferri R, 2003, CLIN NEUROPHYSIOL, V114, P1671, DOI 10.1016/S1388-2457(03)00153-6 Friston KJ, 2010, NAT REV NEUROSCI, V11, P127, DOI 10.1038/nrn2787 Friston KJ, 2013, TRENDS COGN SCI, V17, P1, DOI 10.1016/j.tics.2012.11.003 Kok P, 2012, CEREB CORTEX, V22, P2197, DOI 10.1093/cercor/bhr310 Kujala T, 2007, BIOL PSYCHOL, V75, P109, DOI 10.1016/j.biopsycho.2006.12.007 Mitchell P, 2004, INFANT CHILD DEV, V13, P185, DOI 10.1002/icd.348 Mottron L, 2006, J AUTISM DEV DISORD, V36, P27, DOI 10.1007/s10803-005-0040-7 Pellicano E, 2012, TRENDS COGN SCI, V16, P504, DOI 10.1016/j.tics.2012.08.009 NR 12 TC 5 Z9 5 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 2041-6695 J9 I-PERCEPTION JI I-Perception PY 2013 VL 4 IS 2 BP 95 EP 97 DI 10.1068/i0580ic PG 3 WC Psychology, Experimental SC Psychology GA AI0UN UT WOS:000336565700002 PM 23755353 ER PT J AU Ronay, R Carney, DR AF Ronay, Richard Carney, Dana R. TI Testosterone's Negative Relationship With Empathic Accuracy and Perceived Leadership Ability SO SOCIAL PSYCHOLOGICAL AND PERSONALITY SCIENCE LA English DT Article DE nonverbal behavior; person perception; psychophysiology; social cognition; interpersonal processes ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; FETAL TESTOSTERONE; PERSPECTIVE-TAKING; PREFRONTAL CORTEX; NEURAL MECHANISMS; SOCIAL COGNITION; EYES TEST; BEHAVIOR; MIND AB Two studies examine the relationship between naturally occurring levels of circulating testosterone and empathic accuracy. In Study 1, the authors find that higher endogenous levels of testosterone are negatively related to the accuracy with which people infer the thoughts and feelings of others. In Study 2, the authors use 360 data collected in the field to show that individuals with higher levels of endogenous testosterone are evaluated by their real-world professional colleagues as functioning with lower levels of empathic accuracy. 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Psychol. Personal Sci. PD JAN PY 2013 VL 4 IS 1 BP 92 EP 99 DI 10.1177/1948550612442395 PG 8 WC Psychology, Social SC Psychology GA AH9BR UT WOS:000336434700013 ER PT J AU Abdallah, MW Hougaard, DM Norgaard-Pedersen, B Grove, J Bonefeld-Jorgensen, EC Mortensen, EL AF Abdallah, M. W. Hougaard, D. M. Norgaard-Pedersen, B. Grove, J. Bonefeld-Jorgensen, E. C. Mortensen, E. L. TI INFECTIONS DURING PREGNANCY AND AFTER BIRTH, AND THE RISK OF AUTISM SPECTRUM DISORDERS: A REGISTER-BASED STUDY UTILIZING A DANISH HISTORIC BIRTH COHORT SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Abdallah, M. W.] Aarhus Univ HLTH, Sect Epidemiol, Aarhus, Denmark. [Abdallah, M. W.; Hougaard, D. M.; Norgaard-Pedersen, B.] Statens Serum Inst, Dept Clin Biochem & Immunol, DK-2300 Copenhagen, Denmark. [Abdallah, M. W.] Univ Rostock, Rostock Univ Hosp, Dept Psychiat & Psychotherapy, D-18055 Rostock, Germany. [Grove, J.] Aarhus Univ HLTH, Dept Biomed, Aarhus, Denmark. [Grove, J.] Aarhus Univ HLTH, Bioinformat Res Ctr BiRC, Aarhus, Denmark. [Bonefeld-Jorgensen, E. C.] Aarhus Univ HLTH, Ctr Arctic Environm Med, Aarhus, Denmark. [Bonefeld-Jorgensen, E. C.] Aarhus Univ HLTH, Unit Cellular & Mol Toxicol, Aarhus, Denmark. [Mortensen, E. L.] Univ Copenhagen, Inst Publ Hlth, Copenhagen, Denmark. [Mortensen, E. L.] Univ Copenhagen, Ctr Healthy Aging, Copenhagen, Denmark. RI Bonefeld-Jorgensen, Eva Cecilie/A-1682-2015 NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 869 PG 1 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460600326 ER PT J AU Ali, D Effat, S El Serafi, D AF Ali, D. Effat, S. El Serafi, D. TI MOTOR DISTURBANCES IN AUTISTIC CHILDREN: CROSS SECTIONAL, CONTROLLED STUDY SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract DE Motor deficits; Essential feature; Autism; Children C1 [Ali, D.] Prince Sultan Humanitarian City, Psychiat, Riyadh, Saudi Arabia. [Ali, D.; Effat, S.; El Serafi, D.] Ain Shams Univ, Cairo, Egypt. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 1188 PG 1 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460600560 ER PT J AU Derguy, C Bouvard, M M'bailara, K Ferreira, AD Croise, A Michel, G AF Derguy, C. Bouvard, M. M'bailara, K. Ferreira, A. Denis Croise, A. Michel, G. TI HAVING A CHILD WITH AUTISM: WHAT KIND OF NEEDS AND SUPPORT EXPECTATIONS FOR PARENTS? SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Derguy, C.; M'bailara, K.; Ferreira, A. Denis; Croise, A.; Michel, G.] Univ Bordeaux Segalen, Lab EA 4139, Bordeaux, France. [Derguy, C.; Bouvard, M.] Ctr Ressources Autisme Aquitaine, Bordeaux, France. [M'bailara, K.] Hosp Charles Perrens, Bordeaux, France. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 2648 PG 1 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460602082 ER PT J AU Dokukina, TV AF Dokukina, T. V. TI ASPECTS OF DISBALANCE MACRO- AND MICROELEMENTS IN CHILDREN WITH AUTISM SPECTRUM DISORDERS IN BELARUS SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Dokukina, T. V.] Belarusian State Univ, Republican Res & Pract Ctr Mental Hlth, Minsk, Byelarus. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 1955 PG 1 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460601599 ER PT J AU Fitzgerald, M AF Fitzgerald, M. TI Overlap autism and schizophrenia SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 592 DI 10.1016/S0924-9338(13)75865-6 PG 1 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460600154 ER PT J AU Iakimova, G Mardaga, S Couvreux, M Hun, S Serret, S Askenazy, F AF Iakimova, G. Mardaga, S. Couvreux, M. Hun, S. Serret, S. Askenazy, F. TI CAN A TRAINING WITH VIDEO GAME OF SOCIAL COGNITION ENHANCE NEUROCOGNITIVE PROCESSES OF EMOTIONAL PERCEPTION IN AUTISM SPECTRUM? INSIGHTS OF EVENT-RELATED POTENTIALS SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Iakimova, G.; Mardaga, S.; Couvreux, M.] Univ Nice Sophia Antipolis, Lab Anthropol & Psychol Cognit & Sociales, F-06189 Nice, France. [Hun, S.; Serret, S.; Askenazy, F.] CHU Lenval, Serv Univ Psychiat Enfant & Adolescent, Hop Pediat, Ctr Ressources Autisme, Nice, France. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 2263 PG 1 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460601830 ER PT J AU Jedrzejczyk-Goral, B Flisiak-Antonijczuk, H Kalinowski, R AF Jedrzejczyk-Goral, B. Flisiak-Antonijczuk, H. Kalinowski, R. TI THE FREQUENCY OF DIFFERENT TYPES OF SEIZURES IN CHILDREN SUFFERED FROM AUTISM AND EPILEPSY SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Jedrzejczyk-Goral, B.; Flisiak-Antonijczuk, H.; Kalinowski, R.] Neuropsychiat Ctr Neuromed, Wroclaw, Poland. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 1925 PG 1 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460601576 ER PT J AU Kotrotsiou, E Dragioti, E Kitta, M Bakou, E Albani, E Mantzoukas, S Gouva, M AF Kotrotsiou, E. Dragioti, E. Kitta, M. Bakou, E. Albani, E. Mantzoukas, S. Gouva, M. TI DISCRIMINATION OF FAMILY ENVIRONMENT AMONG PARENTS OF CHILDREN WITH DIABETES AND PARENTS OF CHILDREN WITH AUTISM SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Kotrotsiou, E.] Higher Technol Educ Inst Larissa, Sch Hlth, Larisa, Greece. [Dragioti, E.] Sotiria Hosp, Dept Psychiat, Athens, Greece. [Kitta, M.; Bakou, E.; Albani, E.] Univ Thessaly, Med Sch Postgrad Program Primary Care Hlth, Larisa, Greece. [Mantzoukas, S.; Gouva, M.] Higher Technol Educ Inst Epirus, Sch Hlth, Ioannina, Greece. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 1877 PG 1 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460601539 ER PT J AU Lam, PWK AF Lam, P. W. K. TI COMORBID AUTISM SPECTRUM DISORDER AND PROBLEM BEHAVIOURS: A CASE STUDY OF HOME-BASED SENSORY INTEGRATIVE THERAPY SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Lam, P. W. K.] Christian Family Serv Ctr, Integrated Rehabil Serv, Hong Kong, Hong Kong, Peoples R China. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 1193 PG 1 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460600565 ER PT J AU Shtayermman, O AF Shtayermman, O. TI Stress and marital satisfaction of parents to children diagnosed with autism SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 343 DI 10.1016/S0924-9338(13)75737-7 PG 2 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460600026 ER PT J AU van der Ven, E Termorshuizen, F Laan, W Breetvelt, E van Os, J Selten, JP AF van der Ven, E. Termorshuizen, F. Laan, W. Breetvelt, E. van Os, J. Selten, J. -P. TI An incidence study of diagnosed autism-spectrum disorders among immigrants to the netherlands SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 826 DI 10.1016/S0924-9338(13)76001-2 PG 2 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460600290 ER PT J AU Woolf, R Carroll, L Ibrahim, Y Owen, M O' Donovan, M AF Woolf, R. Carroll, L. Ibrahim, Y. Owen, M. O' Donovan, M. TI LARGE-SCALE MUTATION SCREENING OF THE PUTATIVE AUTISM SUSCEPTIBILITY GENE SCN2A IN SCHIZOPHRENIA SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract C1 [Woolf, R.; Carroll, L.; Ibrahim, Y.; Owen, M.; O' Donovan, M.] MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales. NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 2788 PG 1 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460602183 ER PT J AU Yoshimasu, K AF Yoshimasu, K. TI Childhood autism, adhd, and mercury exposures: a meta-analysis SO EUROPEAN PSYCHIATRY LA English DT Meeting Abstract NR 0 TC 0 Z9 0 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0924-9338 EI 1778-3585 J9 EUR PSYCHIAT JI Eur. Psychiat. PY 2013 VL 28 SU 1 MA 763 DI 10.1016/S0924-9338(13)75968-6 PG 2 WC Psychiatry SC Psychiatry GA AG5LN UT WOS:000335460600257 ER PT J AU Grubb, MA Behrmann, M Egan, R Minshew, NJ Heeger, DJ Carrasco, M AF Grubb, Michael A. Behrmann, Marlene Egan, Ryan Minshew, Nancy J. Heeger, David J. Carrasco, Marisa TI Exogenous spatial attention: Evidence for intact functioning in adults with autism spectrum disorder SO JOURNAL OF VISION LA English DT Article DE covert attention; exogenous attention; crowding; visual search; contrast sensitivity; adults; autism; ASD ID SUPERIOR VISUAL-SEARCH; COVERT ATTENTION; CONTRAST SENSITIVITY; OBJECT RECOGNITION; TIME-COURSE; PERFORMANCE; ENHANCEMENT; ECCENTRICITY; RESOLUTION; REFLEXIVE AB Deficits or atypicalities in attention have been reported in individuals with autism spectrum disorder (ASD), yet no consensus on the nature of these deficits has emerged. We conducted three experiments that paired a peripheral precue with a covert discrimination task, using protocols for which the effects of covert exogenous spatial attention on early vision have been well established in typically developing populations. Experiment 1 assessed changes in contrast sensitivity, using orientation discrimination of a contrast-defined grating; Experiment 2 evaluated the reduction of crowding in the visual periphery, using discrimination of a letter-like figure with flanking stimuli at variable distances; and Experiment 3 assessed improvements in visual search, using discrimination of the same letter-like figure with a variable number of distractor elements. In all three experiments, we found that exogenous attention modulated visual discriminability in a group of high-functioning adults with ASD and that it did so in the same way and to the same extent as in a matched control group. We found no evidence to support the hypothesis that deficits in exogenous spatial attention underlie the emergence of core ASD symptomatology. C1 [Grubb, Michael A.; Heeger, David J.; Carrasco, Marisa] NYU, Dept Psychol, New York, NY 10003 USA. [Grubb, Michael A.; Heeger, David J.; Carrasco, Marisa] NYU, Ctr Neural Sci, New York, NY 10003 USA. [Behrmann, Marlene; Egan, Ryan] Carnegie Mellon Univ, Dept Psychol, Pittsburgh, PA 15213 USA. [Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA USA. [Minshew, Nancy J.] Univ Pittsburgh, Sch Med, Dept Neurol, Pittsburgh, PA 15261 USA. RP Carrasco, M (reprint author), NYU, Dept Psychol, 6 Washington Pl, New York, NY 10003 USA. EM marisa.carrasco@nyu.edu FU NIH [R01-EY019693]; SFARI [177638]; ACE [HD055748]; Autism Speaks predoctoral fellowship [7831] FX This research was supported by NIH grant R01-EY019693 to DH and MC, by SFARI grant 177638 to DH and MB, by ACE grant HD055748 to NM, and by Autism Speaks predoctoral fellowship 7831 to MG. 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Vision PY 2013 VL 13 IS 14 AR 9 DI 10.1167/13.14.9 PG 13 WC Ophthalmology SC Ophthalmology GA AG8IN UT WOS:000335662100009 ER PT J AU Pop, CA Simut, RE Pintea, S Saldien, J Rusu, AS Vanderfaeillie, J David, DO Lefeber, D Vanderborght, B AF Pop, Cristina A. Simut, Ramona E. Pintea, Sebastian Saldien, Jelle Rusu, Alina S. Vanderfaeillie, Johan David, Daniel O. Lefeber, Dirk Vanderborght, Bram TI SOCIAL ROBOTS VS. COMPUTER DISPLAY: DOES THE WAY SOCIAL STORIES ARE DELIVERED MAKE A DIFFERENCE FOR THEIR EFFECTIVENESS ON ASD CHILDREN? SO JOURNAL OF EDUCATIONAL COMPUTING RESEARCH LA English DT Article ID AUTISM SPECTRUM DISORDERS; HIGH-FUNCTIONING AUTISM; ASSISTED-INSTRUCTION; TEACHING-CHILDREN; ASPERGER-SYNDROME; VIRTUAL-REALITY; PEOPLE; SKILLS; INTERVENTION; RECOGNIZE AB Background and Objectives: The aim of this exploratory study is to test whether social stories presented by a social robot have a greater effect than ones presented on a computer display in increasing the independency in expressing social abilities of children with autism spectrum disorders (ASD). Although much progress has been made in developing interventions to improve social skills of children with ASD, a number of unresolved problems still remain. Social robots received increased attention as assisting tools for improving social skills on children with ASD. Methods: Twenty children with ASD (age between 4 and 9 years old) were randomly allocated to three groups: control group (n = 7), computer-presented social stories (n = 6), and robot assisted therapy (n = 7). Results: Overall, our data indicate that using the social robot to implement social story intervention was more effective for improving the independency of expressing social abilities for the participants, than the computer screen. Limitations: Future studies should include a bigger sample size, more intervention sessions, and a follow-up session in order to see if the effect persists in time. Conclusions: The preliminary outcomes of this exploratory research provide empirical bases for further investigations regarding the effectiveness of robot assisted therapy in improving social skills for children with autism through future randomized clinical trials. 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TI Preserved first-order configural and holistic face processing in high-functioning adults with autism: an EEG/ERP study SO PERCEPTION LA English DT Meeting Abstract C1 [Tavares, P.; Mouga, S.; Oliveira, G.; Castelo-Branco, M.] Univ Coimbra, Fac Med, IBILI, P-3000 Coimbra, Portugal. EM pmtavares@fmed.uc.pt NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 EI 1468-4233 J9 PERCEPTION JI Perception PY 2013 VL 42 SU S BP 81 EP 81 PG 1 WC Psychology; Psychology, Experimental SC Psychology GA AF7NE UT WOS:000334901000253 ER PT J AU Ainsworth, K Garrod, O Jack, RE Holcomb, C Adolphs, R Schyns, P Simmons, D AF Ainsworth, K. Garrod, O. Jack, R. E. Holcomb, C. Adolphs, R. Schyns, P. Simmons, D. TI Perceptions of Facial Expressions of Emotion in Autism Spectrum Disorders: Reading the "minds eye" Using Reverse Correlation SO PERCEPTION LA English DT Meeting Abstract C1 [Ainsworth, K.; Garrod, O.; Jack, R. E.; Schyns, P.; Simmons, D.] Univ Glasgow, Sch Psychol, Glasgow G12 8QQ, Lanark, Scotland. [Holcomb, C.; Adolphs, R.] CALTECH, Pasadena, CA 91125 USA. EM kirstya@psy.gla.ac.uk RI Simmons, David/A-4916-2012 NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 EI 1468-4233 J9 PERCEPTION JI Perception PY 2013 VL 42 SU S BP 82 EP 82 PG 1 WC Psychology; Psychology, Experimental SC Psychology GA AF7NE UT WOS:000334901000254 ER PT J AU Pereverzeva, D AF Pereverzeva, D. TI Diagnostic and correction of visual object recognition in preschool children with Autism spectrum disorders (ASD) SO PERCEPTION LA English DT Meeting Abstract C1 [Pereverzeva, D.] Moscow State Univ Psychol & Educ, Ctr Neurobiol Diag Hereditary Mental Disorders Ch, Moscow, Russia. EM dasha.pereverzeva@gmail.com NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 EI 1468-4233 J9 PERCEPTION JI Perception PY 2013 VL 42 SU S BP 82 EP 82 PG 1 WC Psychology; Psychology, Experimental SC Psychology GA AF7NE UT WOS:000334901000256 ER PT J AU Whitaker, L Jones, CR Wilkins, A Roberson, D AF Whitaker, L. Jones, C. R. Wilkins, A. Roberson, D. TI Individuals with autism spectrum disorders benefit from the addition of coloured tints when discriminating intensities of facial expressions SO PERCEPTION LA English DT Meeting Abstract C1 [Whitaker, L.; Jones, C. R.; Wilkins, A.; Roberson, D.] Univ Essex, Psychol Dept, Colchester CO4 3SQ, Essex, England. EM lwhita@essex.ac.uk NR 0 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 EI 1468-4233 J9 PERCEPTION JI Perception PY 2013 VL 42 SU S BP 82 EP 82 PG 1 WC Psychology; Psychology, Experimental SC Psychology GA AF7NE UT WOS:000334901000255 ER PT J AU Lord, C Jones, RM AF Lord, Catherine Jones, Rebecca M. BE Walkup, JT Shaffer, D Lee, FS TI New strategies and findings for behavioral interventions in autism spectrum disorders SO CHILDHOOD ONSET DEVELOPMENTAL DISORDERS SE Annals of the New York Academy of Sciences LA English DT Article; Proceedings Paper CT 92nd Annual Conference of the Association-for-Research-in-Nervous-and-Mental-Disease (ARNMD) on Childhood Onset Developmental Disorders CY DEC, 2012 CL New York, NY SP Assoc Res Nervous & Mental Dis DE autism spectrum disorders; behavioral interventions; caregiver training; parent-mediated training ID RANDOMIZED CONTROLLED-TRIAL; YOUNG-CHILDREN; RESEARCH UNITS; DENVER MODEL; RISPERIDONE; PREDICTORS; DISABILITY; ABILITIES; PATTERNS; TODDLERS AB Behavioral interventions are the major source of change for children with autism spectrum disorders and a major cost to families and government. In the last 5 years, a number of carefully designed intervention studies have provided new information about the effects of caregiver training and direct instruction on behavior treatments. Outcomes of these interventions are neither easily assessed nor simple, but are dependent on child characteristics as well as caregiver skills and attitudes. Some interventions aimed at specific skills have similar results, yet there is growing evidence that child interventions may have different effects than caregiver training, although both may affect outcomes in the long term. New research strategies and findings are discussed, with a focus on how underlying behaviors and specific components may contribute to intervention outcomes. C1 [Lord, Catherine; Jones, Rebecca M.] NewYork Presbyterian Hosp, Weill Cornell Med Coll, Westchester Div, Dept Psychiat,Ctr Autism & Dev Brain, White Plains, NY 10605 USA. RP Lord, C (reprint author), NewYork Presbyterian Hosp, Weill Cornell Med Coll, Westchester Div, Dept Psychiat,Ctr Autism & Dev Brain, White Plains, NY 10605 USA. 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PY 2013 VL 1304 BP 70 EP 76 DI 10.1111/nyas.12311 PG 7 WC Clinical Neurology; Pediatrics; Psychology SC Neurosciences & Neurology; Pediatrics; Psychology GA BA2LC UT WOS:000333582200005 PM 24279894 ER PT J AU He, ZX O'Roak, B Smith, J Wang, G Hooker, S Santos-Cortez, R Li, B Kan, MY Krumm, N Nickerson, D Shendure, J Eichler, E Leal, S AF He, Zongxiao O'Roak, Brian Smith, Joshua Wang, Gao Hooker, Stanley Santos-Cortez, Regie Li, Biao Kan, Mengyuan Krumm, Nik Nickerson, Deborah Shendure, Jay Eichler, Evan Leal, Suzanne TI Rare Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data SO HUMAN HEREDITY LA English DT Meeting Abstract CT 42nd European Mathematical Genetics Meeting (EMGM) CY APR 01-02, 2014 CL Cologne, GERMANY C1 [He, Zongxiao; Wang, Gao; Hooker, Stanley; Santos-Cortez, Regie; Li, Biao; Kan, Mengyuan; Leal, Suzanne] Baylor Coll Med, Dept Mol & Human Genet, Ctr Stat Genet, Houston, TX 77030 USA. [O'Roak, Brian; Smith, Joshua; Krumm, Nik; Nickerson, Deborah; Shendure, Jay; Eichler, Evan] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA USA. EM suzannemleal@gmail.com NR 0 TC 0 Z9 0 PU KARGER PI BASEL PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND SN 0001-5652 EI 1423-0062 J9 HUM HERED JI Hum. Hered. PY 2013 VL 76 IS 2 BP 92 EP 92 PG 1 WC Genetics & Heredity SC Genetics & Heredity GA AD6BD UT WOS:000333337100022 ER PT J AU Ionita-Laza, I Capanu, M De Rubeis, S McCallum, K Buxbaum, J AF Ionita-Laza, Iuliana Capanu, Marinela De Rubeis, Silvia McCallum, Kenneth Buxbaum, Joseph TI Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to Gene VPS13B, Involved in Cohen Syndrome and Autism SO HUMAN HEREDITY LA English DT Meeting Abstract CT 42nd European Mathematical Genetics Meeting (EMGM) CY APR 01-02, 2014 CL Cologne, GERMANY C1 [Ionita-Laza, Iuliana; McCallum, Kenneth] Columbia Univ, New York, NY USA. [Capanu, Marinela] Mem Sloan Kettering Canc Ctr, New York, NY 10021 USA. [De Rubeis, Silvia; Buxbaum, Joseph] Mt Sinai Sch Med, New York, NY USA. EM ii2135@columbia.edu NR 0 TC 0 Z9 0 PU KARGER PI BASEL PA ALLSCHWILERSTRASSE 10, CH-4009 BASEL, SWITZERLAND SN 0001-5652 EI 1423-0062 J9 HUM HERED JI Hum. Hered. PY 2013 VL 76 IS 2 BP 93 EP 93 PG 1 WC Genetics & Heredity SC Genetics & Heredity GA AD6BD UT WOS:000333337100023 ER PT J AU Burns, TG King, TZ Spencer, KS AF Burns, Thomas G. King, Tricia Z. Spencer, Katherine S. TI Mullen Scales of Early Learning: The Utility in Assessing Children Diagnosed With Autism Spectrum Disorders, Cerebral Palsy, and Epilepsy SO APPLIED NEUROPSYCHOLOGY-CHILD LA English DT Article DE autism; cerebral palsy; epilepsy; MSEL; pediatrics ID WEIGHT PRETERM INFANTS; COGNITIVE FUNCTION; EARLY-INTERVENTION; YOUNG-CHILDREN; PROFILE; PERFORMANCE; LIMITATIONS; AGE AB A group of 47 patients diagnosed with neurodevelopmental disorders were compared to 47 age-, gender-, and racially matched typically developing children to examine the frequency of impairment across domains of the Mullen Scales of Early Learning (MSEL). The MSEL is a comprehensive measure of cognitive functioning designed to assess infants and preschool children between the ages of birth to 68 months. In the neurodevelopmental group, the sample was composed of children 2 to 4 years of age who were diagnosed with autism spectrum disorders (ASD; n = 19), cerebral palsy (CP; n = 14), and epilepsy (EPI; n = 14). A sample of 47 matched controls, taken from the normative sample of the MSEL, was used as a comparison group. Each one of the clinical groups comprising the neurodevelopmental sample demonstrated statistically significant delays across domains relative to the respective matched control group (p < .001). Children failed to demonstrate a "signature" profile for a diagnosis of ASD, CP, or EPI. The clinical sensitivity of the MSEL and the need for obtaining specific intervention services for children diagnosed with these conditions are presented. Finally, these results are discussed within the context of the clinical sensitivity of the MSEL in working with these clinical populations. C1 [Burns, Thomas G.; Spencer, Katherine S.] Childrens Healthcare Atlanta, Dept Neuropsychol, Neurosci Div, Atlanta, GA 30342 USA. [Burns, Thomas G.] Emory Univ, Sch Med, Atlanta, GA USA. [King, Tricia Z.] Georgia State Univ, Dept Psychol, Atlanta, GA 30303 USA. 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Neuropsychol.-Child PY 2013 VL 2 IS 2 SI SI BP 125 EP 132 DI 10.1080/21622965.2013.748389 PG 8 WC Clinical Neurology; Psychology SC Neurosciences & Neurology; Psychology GA AD0TF UT WOS:000332946300007 PM 23442015 ER PT J AU Sireteanu, A Volosciuc, M Gramescu, M Gorduza, EV Vulpoi, C Frunza, I Rusu, C AF Sireteanu, A. Volosciuc, M. Gramescu, M. Gorduza, E., V Vulpoi, C. Frunza, I Rusu, C. TI DICENTRIC CHROMOSOME 14;18 PLUS TWO ADDITIONAL CNVs IN A GIRL WITH MICROFORM HOLOPROSENCEPHALY AND TURNER STIGMATA SO BALKAN JOURNAL OF MEDICAL GENETICS LA English DT Article DE 18p-syndrome; Holoprosencephaly (HPE); Single nucleotide polymorphism (SNP) array; 16p11.2 duplication ID MOLECULAR CHARACTERIZATION; 16P11.2; 18P; REARRANGEMENTS; ASSOCIATION; DELETION; AUTISM AB We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis identified a pseudodicentric 14;18 chromosome. Genome wide single nucleotide polymorphism (SNP) array showed a terminal deletion of approximately 10.24 Mb, from 18p11.32 to 18p11.22, flanked by a duplication of approximately 1.15 Mb, from 18p11.22 to 18p11.21. In addition, the SNP array revealed a duplication of 516 kb in 16p11.2. We correlated the patient's clinical findings with the features mentioned in the literature for these copy number variations. This case study shows the importance of microarray analysis in the detection of cryptic chromosomal rearrangements in patients with intellectual disability and multiple congenital anomalies. C1 [Sireteanu, A.; Gorduza, E., V; Rusu, C.] Grigore T Popa Univ Med & Pharm, Dept Med Genet, Iasi 700115, Romania. [Volosciuc, M.] Sf Maria Childrens Hosp, Ctr Med Genet, Iasi, Romania. [Vulpoi, C.] Grigore T Popa Univ Med & Pharm, Dept Endocrinol, Iasi 700115, Romania. [Frunza, I] CF Hosp, Dept Neurol, Iasi, Romania. RP Rusu, C (reprint author), Grigore T Popa Univ Med & Pharm, Dept Med Genet, Str Univ 16, Iasi 700115, Romania. 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O. B. 428, SKOPJE, 1000, MACEDONIA SN 1311-0160 J9 BALK J MED GENET JI Balk. J. Med. Gen. PY 2013 VL 16 IS 2 BP 67 EP 72 DI 10.2478/bjmg-2013-0034 PG 6 WC Genetics & Heredity SC Genetics & Heredity GA AD0RV UT WOS:000332942700010 PM 24778566 ER PT J AU Nousen, EK Franco, JG Sullivan, EL AF Nousen, Elizabeth K. Franco, Juliana G. Sullivan, Elinor L. TI Unraveling the Mechanisms Responsible for the Comorbidity between Metabolic Syndrome and Mental Health Disorders SO NEUROENDOCRINOLOGY LA English DT Article DE Obesity; Metabolic syndrome Diabetes; Schizophrenia; Bipolar disorder; Depression ID HEART-RATE-VARIABILITY; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; CORTICOTROPIN-RELEASING-FACTOR; HIGH-FAT DIET; DEFICIT HYPERACTIVITY DISORDER; NUTRITION EXAMINATION SURVEY; AUTISM SPECTRUM DISORDER; TYPE-2 DIABETES-MELLITUS; NIGHT EATING SYNDROME; BODY-MASS INDEX AB The increased prevalence and high comorbidity of metabolic syndrome (MetS) and mental health disorders (MHDs) have prompted investigation into the potential contributing mechanisms. There is a bidirectional association between MetS and MHDs including schizophrenia, bipolar disorder, depression, anxiety, attention-deficit/hyperactivity disorder, and autism spectrum disorders. Medication side effects and social repercussions are contributing environmental factors, but there are a number of shared underlying neurological and physiological mechanisms that explain the high comorbidity between these two disorders. Inflammation is a state shared by both disorders, and it contributes to disruptions of neuroregulatory systems (including the serotonergic, dopaminergic, and neuropeptide Y systems) as well as dysregulation of the hypothalamic-pituitary-adrenal axis. MetS in pregnant women also exposes the developing fetal brain to inflammatory factors that predispose the offspring to MetS and psychopathologies. Due to the shared nature of these conditions, treatment should address aspects of both mental health and metabolic disorders. Additionally, interventions that can interrupt the transfer of increased risk of the disorders to the next generation need to be developed. (C) 2013 S. Karger AG, Basel C1 [Nousen, Elizabeth K.; Franco, Juliana G.; Sullivan, Elinor L.] Oregon Natl Primate Res Ctr, Div Diabet Obes & Metab, Beaverton, OR USA. [Sullivan, Elinor L.] Univ Portland, Dept Biol, Portland, OR 97203 USA. RP Sullivan, EL (reprint author), Univ Portland, 5000 N Willamette Blvd, Portland, OR 97203 USA. EM sullivae@up.edu FU Murdock Charitable Trust; Murdock College Research Program for Life Science [2011273:HVP]; Oregon Clinical and Translational Research Institute (OCTRI) [UL1TR000128]; National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH) FX This publication was supported by the Murdock Charitable Trust, Murdock College Research Program for Life Science, grant No. 2011273:HVP and Oregon Clinical and Translational Research Institute (OCTRI), grant No. (UL1TR000128) from the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH). The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. 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James, Georgina Cowdrey, Felicity A. Soler, Angela Choke, Aislinn TI Cognitive behavioural therapy for anxiety disorders in children and adolescents SO COCHRANE DATABASE OF SYSTEMATIC REVIEWS LA English DT Review DE Cognitive Therapy; Anxiety Disorders [therapy]; Randomized Controlled Trials as Topic; Adolescent; Child; Humans ID RANDOMIZED CLINICAL-TRIAL; AUTISM SPECTRUM DISORDERS; GENERALIZED SOCIAL PHOBIA; 1-YEAR FOLLOW-UP; CHILDHOOD ANXIETY; ANXIOUS CHILDREN; PARENTAL INVOLVEMENT; EARLY INTERVENTION; DEPRESSIVE-DISORDERS; FAMILY MODALITIES AB Background A previous Cochrane review (James 2005) showed that cognitive behavioural therapy (CBT) was effective in treating childhood anxiety disorders; however, questions remain regarding (1) the relative efficacy of CBT versus non-CBT active treatments; (2) the relative efficacy of CBT versus medication and the combination of CBT and medication versus placebo; and (3) the long-term effects of CBT. Objectives To examine (1) whether CBT is an effective treatment for childhood and adolescent anxiety disorders in comparison with (a) wait-list controls; (b) active non-CBT treatments (i.e. psychological placebo, bibliotherapy and treatment as usual (TAU)); and (c) medication and the combination of medication and CBT versus placebo; and (2) the long-term effects of CBT. Search methods Searches for this review included the Cochrane Central Register of Controlled Trials (CENTRAL) and the Cochrane Depression, Anxiety and Neurosis Group Register, which consists of relevant randomised controlled trials from the bibliographic databases The Cochrane Library (1970 to July 2012), EMBASE, (1970 to July 2012) MEDLINE (1970 to July 2012) and PsycINFO (1970 to July 2012). Selection criteria All randomised controlled trials (RCTs) of CBT versus waiting list, active control conditions, TAU or medication were reviewed. All participants must have met the criteria of the Diagnostic and Statistical Manual (DSM) or the International Classification of Diseases (ICD) for an anxiety diagnosis, excluding simple phobia, obsessive-compulsive disorder, post-traumatic stress disorder and elective mutism. Data collection and analysis The methodological quality of included trials was assessed by three reviewers independently. For the dichotomous outcome of remission of anxiety diagnosis, the odds ratio (OR) with 95% confidence interval (CI) based on the random-effects model, with pooling of data via the inverse variance method of weighting, was used. Significance was set at P < 0.05. Continuous data on each child's anxiety symptoms were pooled using the standardised mean difference (SMD). Main results Forty-one studies consisting of 1806 participants were included in the analyses. The studies involved children and adolescents with anxiety of mild to moderate severity in university and community clinics and school settings. For the primary outcome of remission of any anxiety diagnosis for CBT versus waiting list controls, intention-to-treat (ITT) analyses with 26 studies and 1350 participants showed an OR of 0.13 (95% CI 0.09 to 0.19, Z = 10.26, P < 0.0001), but with evidence of moderate heterogeneity (P = 0.04, I-2 = 33%). The number needed to treat (NNT) was 6.0 (95% CI 7.5 to 4.6). No difference in outcome was noted between individual, group and family/parental formats. ITT analyses revealed that CBT was no more effective than non-CBT active control treatments (six studies, 426 participants) or TAU in reducing anxiety diagnoses (two studies, 88 participants). The few controlled follow-up studies (n = 4) indicate that treatment gains in the remission of anxiety diagnosis are not statistically significant. Authors' conclusions Cognitive behavioural therapy is an effective treatment for childhood and adolescent anxiety disorders; however, the evidence suggesting that CBT is more effective than active controls or TAU or medication at follow-up, is limited and inconclusive. C1 [James, Anthony C.; Cowdrey, Felicity A.] Univ Oxford, Dept Psychiat, Oxford, England. [James, Anthony C.; Choke, Aislinn] Warneford Hosp, Highfield Family & Adolescent Unit, Oxford OX3 7JX, England. [James, Georgina] Univ Durham, Sch Med Pharm & Hlth, Stockton On Tees, England. [Soler, Angela] Warneford Hosp, Dept Psychiat, Oxford OX3 7JX, England. RP James, AC (reprint author), Warneford Hosp, Highfield Family & Adolescent Unit, Oxford OX3 7JX, England. 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PY 2013 IS 6 AR CD004690 DI 10.1002/14651858.CD004690.pub3 PG 107 WC Medicine, General & Internal SC General & Internal Medicine GA 174AH UT WOS:000321124500003 ER PT J AU Nicholas, D Clarke, M Ghali, L Macintosh, C AF Nicholas, David Clarke, Margaret Ghali, Laura Macintosh, Chris TI Building online support for parents of youth and adults with Autism Spectrum Disorder using qualitative methods SO INTERNATIONAL JOURNAL OF QUALITATIVE METHODS LA English DT Meeting Abstract C1 [Nicholas, David; Clarke, Margaret; Ghali, Laura; Macintosh, Chris] Univ Calgary, Calgary, AB T2N 1N4, Canada. NR 0 TC 0 Z9 0 PU UNIV ALBERTA, INT INST QUALITATIVE METHODOLOGY PI EDMONTON PA 5-217, EDMONTON CLINIC HEALTH ACAD, 11405 87 AVENUE, EDMONTON, AB T6G 1C9, CANADA SN 1609-4069 J9 INT J QUAL METH JI Int. J. Qual. Meth. PY 2013 VL 12 BP 736 EP 737 PG 2 WC Social Sciences, Interdisciplinary SC Social Sciences - Other Topics GA AB9CV UT WOS:000332088100070 ER PT J AU Yukselen, A Yaban, EH AF Yukselen, Arzu Yaban, E. Helin TI Social Competence of Integrated Children With Mild Intellectual Disability SO HACETTEPE UNIVERSITESI EGITIM FAKULTESI DERGISI-HACETTEPE UNIVERSITY JOURNAL OF EDUCATION LA Turkish DT Article DE intellectual disability; integrated programs; social competence; problem behaviors ID BEHAVIOR RATING FORM; EXTERNALIZING PROBLEMS; DEVELOPMENTAL DELAYS; EMOTIONAL-PROBLEMS; PEER RELATIONSHIPS; DOWN-SYNDROME; FRIENDSHIPS; DISORDERS; CHILDHOOD; AUTISM AB This study examines the social competence of integrated children with mild intellectual disability (ID) by comparing parents' and teachers' ratings. The relationships between social behaviors and age and whether these behaviors vary as a function of years of teaching experience and type of integration are also investigated. Data is obtained through self-report questionnaires completed by parents and teachers of 106 4-18 years aged integrated children with ID from Ankara, Turkey. Descriptive analysis results indicate that correlations between parents' and teachers' reports range from low to moderate. Prosocial behaviors increase along with age although the relationships vary with respect to parents' and teachers' ratings. Parents' reports of hyperactivity/overly sensitive scores differentiate according to years of teaching experience and type of integration. Teachers' reports of self-isolated/ritualistic and insecure/anxious scores vary based on years of teaching experience. Effect of type of integration on teachers' reports of self-isolated/ritualistic scores is found. C1 [Yukselen, Arzu; Yaban, E. Helin] Hacettepe Univ, Saglik Bilimleri Fak, Ankara, Turkey. RP Yukselen, A (reprint author), Hacettepe Univ, Saglik Bilimleri Fak, Ankara, Turkey. 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PY 2013 VL 28 IS 3 BP 454 EP 468 PG 15 WC Education & Educational Research SC Education & Educational Research GA AB3AC UT WOS:000331662700034 ER PT J AU Saemundsen, E Magnusson, P Georgsdottir, I Egilsson, E Rafnsson, V AF Saemundsen, Evald Magnusson, Pall Georgsdottir, Ingibjorg Egilsson, Erlendur Rafnsson, Vilhjalmur TI Prevalence of autism spectrum disorders in an Icelandic birth cohort SO BMJ OPEN LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; EPILEPSY; CHILDREN AB Objectives: A steady increase in the prevalence of autism spectrum disorders (ASD) has been reported in studies based on different methods, requiring adjustment for participation and missing data. Recent studies with high ASD prevalence rates rarely report on co-occurring medical conditions. The aim of the study was to describe the prevalence of clinically confirmed cases of ASD in Iceland and concomitant medical conditions. Design: The cohort is based on a nationwide database on ASD among children born during 1994-1998. Participants: A total of 267 children were diagnosed with ASD, 197 boys and 70 girls. Only clinically confirmed cases were included. All received physical and neurological examination, standardised diagnostic workup for ASD, as well as cognitive testing. ASD diagnosis was established by interdisciplinary teams. Information on medical conditions and chromosomal testing was obtained by record linkage with hospital registers. Setting: Two tertiary institutions in Iceland. The population registry recorded 22 229 children in the birth cohort. Results: Prevalence of all ASD was 120.1/10 000 (95% CI 106.6 to 135.3), for boys 172.4/10 000 (95% CI 150.1 to 198.0) and for girls 64.8/10 000 (95% CI 51.3 to 81.8). Prevalence of all medical conditions was 17.2% (95% CI 13.2 to 22.2), including epilepsy of 7.1% (95% CI 4.6 to 10.8). The proportion of ASD cases with cognitive impairment (intellectual quotient <70) was 45.3%, but only 34.1% were diagnosed with intellectual disability (ID). Children diagnosed earlier or later did not differ on mean total score on a standardised interview for autism. Conclusions: The number of clinically verified cases is larger than in previous studies, yielding a prevalence of ASD on a similar level as found in recent non-clinical studies. The prevalence of co-occurring medical conditions was high, considering the low proportion of ASD cases that also had ID. Earlier detection is clearly desirable in order to provide counselling and treatment. C1 [Saemundsen, Evald; Georgsdottir, Ingibjorg] State Diagnost & Counselling Ctr, Div Autism, Kopavogur, Iceland. [Saemundsen, Evald] Univ Iceland, Fac Med, Reykjavik, Iceland. [Magnusson, Pall; Egilsson, Erlendur] Landspitali Univ Hosp, Dept Child & Adolescent Psychiat, Reykjavik, Iceland. [Rafnsson, Vilhjalmur] Univ Iceland, Fac Med, Dept Prevent Med, Reykjavik, Iceland. RP Saemundsen, E (reprint author), State Diagnost & Counselling Ctr, Div Autism, Kopavogur, Iceland. EM evald@greining.is FU Freemasons Fund of the Icelandic Order of Freemasons FX This work was partly supported by the Freemasons Fund of the Icelandic Order of Freemasons. The sponsors played no role in the design and conduct of the study; in the collection, analysis and interpretation of the data, or in the preparation, review or approval of the manuscript. 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Among these pollutants are dioxins, polychlorinated biphenyls, pesticides, brominated flame retardants, plasticizers (bisphenol A, nonylphenol, and phthalates) as well as personal care products and drugs. In addition to toxic effects, they are able to interfere with hormone receptors, hormone synthesis or hormone conversion. Because these chemicals alter hormone-dependent processes and disrupt functioning of the endocrine glands, they have been classified as endocrine-disrupting chemicals (EDCs). Because certain EDCs are able to alter neural transmission and the formation of neural networks, the term neural-disrupting chemicals has been introduced, thus implicating EDCs in the etiology of neurological disorders. Recently, public concern has been focused on the effects of EDCs on brain function, concomitantly with an increase in neuropsychiatric disorders, including autism, attention deficit and hyperactivity disorder as well as learning disabilities and aggressiveness. 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PY 2013 VL 73 IS 4 BP 557 EP 563 PG 7 WC Neurosciences SC Neurosciences & Neurology GA 296RO UT WOS:000330203300011 PM 24457645 ER PT S AU Martino, D Madhusudan, N Zis, P Cavanna, AE AF Martino, Davide Madhusudan, Namrata Zis, Panagiotis Cavanna, Andrea E. BE Martino, D Cavanna, AE TI An Introduction to the Clinical Phenomenology of Tourette Syndrome SO ADVANCES IN THE NEUROCHEMISTRY AND NEUROPHARMACOLOGY OF TOURETTE SYNDROME SE International Review of Neurobiology LA English DT Review; Book Chapter ID OBSESSIVE-COMPULSIVE DISORDER; DEFICIT HYPERACTIVITY DISORDER; DEEP BRAIN-STIMULATION; QUALITY-OF-LIFE; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; IMPULSE-CONTROL DISORDERS; GTS-QOL DEVELOPMENT; TIC DISORDERS; SENSORY PHENOMENA AB Tourette syndrome (TS) is the primary tic disorder that reaches most commonly medical attention and monitoring, with an estimated prevalence close to 1% between 5 and 18 years of age. Motor and phonic tics are the core features of TS. In addition to their well-characterized phenomenology, tics display a peculiar variability overtime, which is strongly influenced by a variety of contextual factors. The sensory phenomena of TS are increasingly recognized as another crucial symptom of TS and consist of premonitory urges and somatic hypersensitivity. A relevant proportion of patients with TS display complex, tic-like, repetitive behaviors that include echophenomena, coprophenomena, and nonobscene socially inappropriate behaviors (NOSIBs). The burden of behavioral comorbidities is very important in determining the degree of disability of TS patients. Only a small minority of TS patients presents exclusively with a tic disorder. Obsessive-compulsive symptoms and related disorder (OCD) are common in TS, and the clinical distinction between compulsions and complex tics may be difficult in some cases. Probably, the presence of comorbid attention deficit hyperactivity disorder (ADHD) is the main determinant of cognitive dysfunction in TS patients and influences heavily also the risk of developing disruptive behaviors. Affective disorders, impulse control disorders, autism spectrum disorders, and personality disorders complete the wide psychopathological spectrum of this condition, but have been less investigated than OCD and ADHD. The complexity of the burette spectrum has been confirmed by cluster and factor analytical approaches, and is likely to inform the study of the genetic basis of this disorder, as well as future reappraisal of its nosography, with the development of novel clinical subtypes. C1 [Martino, Davide] Queen Elizabeth Hosp, London, England. [Martino, Davide] Queen Mary Univ London, Ctr Neurosci & Trauma, London, England. [Martino, Davide; Zis, Panagiotis] Kings Coll Hosp London, London, England. [Madhusudan, Namrata; Cavanna, Andrea E.] Univ Birmingham, Dept Neuropsychiat, Birmingham, W Midlands, England. [Madhusudan, Namrata; Cavanna, Andrea E.] BSMHFT, Birmingham, W Midlands, England. [Cavanna, Andrea E.] Aston Univ, Sch Life & Hlth Sci, Birmingham B4 7ET, W Midlands, England. [Cavanna, Andrea E.] UCL, Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London, England. RP Martino, D (reprint author), Queen Elizabeth Hosp, London, England. 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Rev. Neurobiol. PY 2013 VL 112 BP 1 EP 33 DI 10.1016/B978-0-12-411546-0.00001-9 PG 33 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA BJQ00 UT WOS:000329549300002 PM 24295616 ER PT S AU Paschou, P Fernandez, TV Sharp, F Heiman, GA Hoekstra, PJ AF Paschou, Peristera Fernandez, Thomas V. Sharp, Frank Heiman, Gary A. Hoekstra, Pieter J. BE Martino, D Cavanna, AE TI Genetic Susceptibility and Neurotransmitters in Tourette Syndrome SO ADVANCES IN THE NEUROCHEMISTRY AND NEUROPHARMACOLOGY OF TOURETTE SYNDROME SE International Review of Neurobiology LA English DT Review; Book Chapter ID OBSESSIVE-COMPULSIVE DISORDER; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; TRYPTOPHAN HYDROXYLASE-2 GENE; DOPAMINE-D4 RECEPTOR LOCUS; SEROTONIN TRANSPORTER GENE; AUTISM SPECTRUM DISORDERS; HISTAMINE H-3; TIC SEVERITY; TRANSMISSION-DISEQUILIBRIUM; NEUROPSYCHIATRIC DISORDERS AB Family studies have consistently shown that Tourette syndrome (TS) is a familial disorder and twin studies have clearly indicated a genetic contribution in the etiology of TS. Whereas early segregation studies of TS suggested a single-gene autosomal dominant disorder, later studies have pointed to more complex models including additive and multifactorial inheritance and likely interaction with genetic factors. While the exact cellular and molecular base of TS is as yet elusive, neuroanatomical and neurophysiological studies have pointed to the involvement of cortico-striato-thalamocortical circuits and abnormalities in dopamine, glutamate, gamma-aminobutyric acid, and serotonin neurotransmitter systems, with the most consistent evidence being available for involvement of dopamine-related abnormalities, that is, a reduction in tonic extracellular dopamine levels along with hyperresponsive spike-dependent dopamine release, following stimulation. Genetic and gene expression findings are very much supportive of involvement of these neurotransmitter systems. Moreover, intriguingly, genetic work on a two-generation pedigree has opened new research pointing to a role for histamine, a so far rather neglected neurotransmitter, with the potential of the development of new treatment options. Future studies should be aimed at directly linking neurotransmitter-related genetic and gene expression findings to imaging studies (imaging genetics), which enables a better understanding of the pathways and mechanisms through which the dynamic interplay of genes, brain, and environment shapes the TS phenotype. C1 [Paschou, Peristera] Democritus Univ Thrace, Dept Mol Biol & Genet, Alexandroupolis, Greece. [Fernandez, Thomas V.] Yale Univ Sch Med, Ctr Child Study, New Haven, CT USA. [Sharp, Frank] Univ Calif Davis, Dept Neurol, Sacramento, CA 95817 USA. [Sharp, Frank] Univ Calif Davis, MIND Inst, Sacramento, CA 95817 USA. [Heiman, Gary A.] Rutgers State Univ, Dept Genet, Piscataway, NJ USA. [Hoekstra, Pieter J.] Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, Groningen, Netherlands. RP Hoekstra, PJ (reprint author), Univ Groningen, Dept Psychiat, Univ Med Ctr Groningen, Groningen, Netherlands. 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Rev. Neurobiol. PY 2013 VL 112 BP 155 EP 177 DI 10.1016/B978-0-12-411546-0.00006-8 PG 23 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA BJQ00 UT WOS:000329549300007 PM 24295621 ER PT J AU Daud, MKM Noor, SSM Yusoff, MNCM Abd Rahman, N Zakaria, MN AF Daud, M. K. Md Noor, S. S. M. Yusoff, M. N. C. M. Abd Rahman, N. Zakaria, M. N. TI Gender differences in coping skills of parents with hearing-impaired children SO B-ENT LA English DT Article DE Hearing loss; sensorineural; coping skills; gender; parents ID MOTHERS; SPIRITUALITY; STRATEGIES; INFANTS; AUTISM AB Objective: To assess differences between the coping strategies of the mothers and fathers with hearing-impaired children. Methodology: A cross-sectional study was conducted looking at parents of children with moderate to profound hearing impairment. The parents with more than one child with a hearing impairment, the parents of children with additional disabilities and syndromes, single parents, and parents with their own hearing impairments were excluded from the study. A Brief COPE Scale questionnaire translated into Malay was used to assess the coping strategies. The questionnaire includes 28 items and was rated using a four-point Likert scale. Independent t-testing was used to compare the coping strategies of mothers and fathers. Simple linear regression was used to determine the association between age and coping strategies. Results: There were 72 participants. The number of mothers and fathers was equal. Religion, active coping and acceptance were the highest three scores in the domains, while substance use and behavioural disengagement were least used in both groups. The domains of religion, seeking emotional support and seeking instrumental support scored significantly higher in mothers than in fathers (p<0.05). There was a significant difference between the two groups in terms of problem-focused strategies (p = 0.016) but not in terms of emotional-focused strategies (p = 0.134). There were significant negative linear correlations between age and seeking emotional support, humour and instrumental support (p<0.05). Conclusion: There were gender differences in the coping strategies among parents with hearing-impaired children. These are important factors that should be considered when counselling and establishing support groups for the parents of these children. C1 [Daud, M. K. Md] Univ Sains Malaysia, Sch Med Sci, Dept Otorhinolaryngol, Kubang Kerian 16150, Kelantan, Malaysia. [Yusoff, M. N. C. M.] Univ Sains Malaysia, Sch Med Sci, Dept Neurosci, Kubang Kerian 16150, Kelantan, Malaysia. [Noor, S. S. M.; Zakaria, M. N.] Univ Sains Malaysia, Sch Hlth Sci, Kubang Kerian 16150, Kelantan, Malaysia. [Abd Rahman, N.] Univ Sains Malaysia, Sch Dent Sci, Kubang Kerian 16150, Kelantan, Malaysia. RP Daud, MKM (reprint author), Univ Sains Malaysia, Sch Med Sci, Dept Otorhinolaryngol Head & Neck Surg, Hlth Campus, Kubang Kerian 16150, Kelantan, Malaysia. 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Top. Dev. Biol. PY 2013 VL 106 BP 171 EP 215 DI 10.1016/B978-0-12-416021-7.00005-5 PG 45 WC Developmental Biology SC Developmental Biology GA BJQ44 UT WOS:000329678700006 PM 24290350 ER PT J AU Andrade, C AF Andrade, Chittaranjan TI Antidepressant Use in Pregnancy and Risk of Autism Spectrum Disorders: A Critical Examination of the Evidence SO JOURNAL OF CLINICAL PSYCHIATRY LA English DT Editorial Material C1 Natl Inst Mental Hlth & Neurosci, Dept Psychopharmacol, Bangalore 560029, Karnataki, India. RP Andrade, C (reprint author), Natl Inst Mental Hlth & Neurosci, Dept Psychopharmacol, Bangalore 560029, Karnataki, India. EM candrade@psychiatrist.com CR Andrade Chittaranjan, 2011, Indian J Psychiatry, V53, P362, DOI 10.4103/0019-5545.91912 Croen LA, 2011, ARCH GEN PSYCHIAT, V68, P1104, DOI 10.1001/archgenpsychiatry.2011.73 Rai D, 2013, BMJ-BRIT MED J, V346, DOI 10.1136/bmj.f2059 NR 3 TC 1 Z9 1 PU PHYSICIANS POSTGRADUATE PRESS PI MEMPHIS PA P O BOX 752870, MEMPHIS, TN 38175-2870 USA SN 0160-6689 EI 1555-2101 J9 J CLIN PSYCHIAT JI J. Clin. Psychiatry PY 2013 VL 74 IS 9 BP 940 EP 941 DI 10.4088/JCP.13ac08607 PG 2 WC Psychology, Clinical; Psychiatry SC Psychology; Psychiatry GA 296LA UT WOS:000330185300012 PM 24107768 ER PT S AU Becker, EBE Stoodley, CJ AF Becker, Esther B. E. Stoodley, Catherine J. BE Konopka, G TI Autism Spectrum Disorder and the Cerebellum SO NEUROBIOLOGY OF AUTISM SE International Review of Neurobiology LA English DT Review; Book Chapter ID TUBEROUS SCLEROSIS COMPLEX; FRAGILE-X-SYNDROME; LHERMITTE-DUCLOS-DISEASE; HIGH-FUNCTIONING AUTISM; FETAL-BRAIN PROTEINS; RETT-SYNDROME; PURKINJE-CELLS; ANGELMAN-SYNDROME; MOUSE MODELS; LANGUAGE DISORDER AB The cerebellum has been long known for its importance in motor learning and coordination. Recently, anatomical, clinical, and neuroimaging studies strongly suggest that the cerebellum supports cognitive functions, including language and executive functions, as well as affective regulation. Furthermore, the cerebellum has emerged as one of the key brain regions affected in autism. Here, we discuss our current understanding of the role of the cerebellum in autism, including evidence from genetic, molecular, clinical, behavioral, and neuroimaging studies. Cerebellar findings in autism suggest developmental differences at multiple levels of neural structure and function, indicating that the cerebellum is an important player in the complex neural underpinnings of autism spectrum disorder, with behavioral implications beyond the motor domain. C1 [Becker, Esther B. E.] Univ Oxford, Dept Physiol, MRC Funct Genom Unit, Oxford, England. [Stoodley, Catherine J.] Amer Univ, Dept Psychol, Washington, DC 20016 USA. RP Becker, EBE (reprint author), Univ Oxford, Dept Physiol, MRC Funct Genom Unit, Oxford, England. 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Rev. Neurobiol. PY 2013 VL 113 BP 1 EP 34 DI 10.1016/B978-0-12-418700-9.00001-0 PG 34 WC Neurosciences SC Neurosciences & Neurology GA BJP98 UT WOS:000329549100002 PM 24290381 ER PT S AU Konopka, G AF Konopka, Genevieve BE Konopka, G TI The Neurobiology of Autism: Integrating Genetics, Brain Development, Behavior, and the Environment PREFACE SO NEUROBIOLOGY OF AUTISM SE International Review of Neurobiology LA English DT Editorial Material; Book Chapter C1 UT Southwestern Med Ctr, Dept Neurosci, Dallas, TX 75390 USA. RP Konopka, G (reprint author), UT Southwestern Med Ctr, Dept Neurosci, Dallas, TX 75390 USA. NR 0 TC 1 Z9 1 PU ELSEVIER ACADEMIC PRESS INC PI SAN DIEGO PA 525 B STREET, SUITE 1900, SAN DIEGO, CA 92101-4495 USA SN 0074-7742 BN 978-0-12-418700-9 J9 INT REV NEUROBIOL JI Int. Rev. Neurobiol. PY 2013 VL 113 BP XI EP XII PG 2 WC Neurosciences SC Neurosciences & Neurology GA BJP98 UT WOS:000329549100001 PM 24290391 ER PT S AU Wilkinson, B Campbell, DB AF Wilkinson, Brent Campbell, Daniel B. BE Konopka, G TI Contribution of Long Noncoding RNAs to Autism Spectrum Disorder Risk SO NEUROBIOLOGY OF AUTISM SE International Review of Neurobiology LA English DT Review; Book Chapter ID X-CHROMOSOME INACTIVATION; SMALL INTERFERING RNAS; GENE-EXPRESSION; CELL-PROLIFERATION; ENDOGENOUS SIRNAS; PROSTATE-CANCER; MESSENGER-RNAS; BC200 RNA; NEURODEVELOPMENTAL DISORDERS; HEPATOCELLULAR-CARCINOMA AB Accumulating evidence indicates that long noncoding RNAs (IncRNAs) contribute to autism spectrum disorder (ASD) risk. Although a few IncRNAs have long been recognized to have important functions, the vast majority of this class of molecules remains uncharacterized. Because IncRNAs are more abundant in human brain than protein-coding RNAs, it is likely that they contribute to brain disorders, including ASD. We review here the known functions of IncRNAs and the potential contributions of IncRNAs to ASD. C1 [Wilkinson, Brent] Univ So Calif, Program Biol & Biomed Sci, Los Angeles, CA 90089 USA. [Wilkinson, Brent; Campbell, Daniel B.] Univ So Calif, Zilkha Neurogenet Inst, Los Angeles, CA USA. [Campbell, Daniel B.] Univ So Calif, Dept Psychiat & Behav Sci, Los Angeles, CA USA. RP Campbell, DB (reprint author), Univ So Calif, Program Biol & Biomed Sci, Los Angeles, CA 90089 USA. 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Rev. Neurobiol. PY 2013 VL 113 BP 35 EP 59 DI 10.1016/B978-0-12-418700-9.00002-2 PG 25 WC Neurosciences SC Neurosciences & Neurology GA BJP98 UT WOS:000329549100003 PM 24290382 ER PT S AU Maloney, SE Rieger, MA Dougherty, JD AF Maloney, Susan E. Rieger, Michael A. Dougherty, Joseph D. BE Konopka, G TI Identifying Essential Cell Types and Circuits in Autism Spectrum Disorders SO NEUROBIOLOGY OF AUTISM SE International Review of Neurobiology LA English DT Review; Book Chapter ID DE-NOVO MUTATIONS; OBSESSIVE-COMPULSIVE DISORDER; TRANSLATIONAL PROFILING APPROACH; COMMON GENETIC-VARIANTS; RETT-SYNDROME; KNOCKOUT MICE; MOUSE MODEL; REPETITIVE BEHAVIOR; MUTANT MICE; SEROTONIN TRANSPORTER AB Autism spectrum disorder (ASD) is highly genetic in its etiology, with potentially hundreds of genes contributing to risk. Despite this heterogeneity, these disparate genetic lesions may result in the disruption of a limited number of key cell types or circuits-information which could be leveraged for the design of therapeutic interventions. While hypotheses for cellular disruptions can be identified by postmortem anatomical analysis and expression studies of ASD risk genes, testing these hypotheses requires the use of animal models. In this review, we explore the existing evidence supporting the contribution of different cell types to ASD, specifically focusing on rodent studies disrupting serotonergic, GABAergic, cerebellar, and striatal cell types, with particular attention to studies of the sufficiency of specific cellular disruptions to generate ASD-related behavioral abnormalities. This evidence suggests multiple cellular routes can create features of the disorder, though it is currently unclear if these cell types converge on a final common circuit. We hope that in the future, systematic studies of cellular sufficiency and genetic interaction will help to classify patients into groups by type of cellular disruptions which suggest tractable therapeutic targets. C1 [Maloney, Susan E.; Rieger, Michael A.; Dougherty, Joseph D.] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63130 USA. [Maloney, Susan E.; Rieger, Michael A.; Dougherty, Joseph D.] Washington Univ, Dept Psychiat, Sch Med, St Louis, MO USA. RP Dougherty, JD (reprint author), Washington Univ, Sch Med, Dept Genet, St Louis, MO 63130 USA. 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Therefore, progress in understanding the genetic and molecular mechanisms of language evolution should provide insight into such disorders. Here, we discuss the few genes that have been identified in both autism-related pathways and language. We also detail the use of animal models to uncover the function of these genes at a mechanistic and circuit level. Finally, we present the use of comparative genomics to identify novel genes and gene networks involved in autism. Together, all of these approaches will allow for a broader and deeper view of the molecular brain mechanisms involved in the evolution of language and the gene disruptions associated with autism. C1 [Lepp, Stephanie; Anderson, Ashley; Konopka, Genevieve] UT Southwestern Med Ctr, Dept Neurosci, Dallas, TX 75390 USA. RP Konopka, G (reprint author), UT Southwestern Med Ctr, Dept Neurosci, Dallas, TX 75390 USA. 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Recent human genetic studies have established MET as a risk factor for autism, and the molecular and cellular underpinnings of this genetic risk are only beginning to emerge from obscurity. Unlike many autism risk genes that encode synaptic proteins, the spatial and temporal expression pattern of MET RTK indicates this signaling system is ideally situated to regulate neuronal growth, functional maturation, and establishment of functional brain circuits, particularly in those brain structures involved in higher levels of cognition, social skills, and executive functions. C1 [Peng, Yun; Qiu, Shenfeng] Univ Arizona, Dept Basic Med Sci, Coll Med, Phoenix, AZ 85004 USA. [Huentelman, Matthew] Translat Genom Res Inst, Neurogen Div, Phoenix, AZ USA. [Smith, Christopher] Southwest Autism Res Ctr, Phoenix, AZ USA. RP Qiu, SF (reprint author), Univ Arizona, Dept Basic Med Sci, Coll Med, Phoenix, AZ 85004 USA. 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Rev. Neurobiol. PY 2013 VL 113 BP 135 EP 165 DI 10.1016/B978-0-12-418700-9.00005-8 PG 31 WC Neurosciences SC Neurosciences & Neurology GA BJP98 UT WOS:000329549100006 PM 24290385 ER PT S AU Kwan, KY AF Kwan, Kenneth Y. BE Konopka, G TI Transcriptional Dysregulation of Neocortical Circuit Assembly in ASD SO NEUROBIOLOGY OF AUTISM SE International Review of Neurobiology LA English DT Review; Book Chapter ID AUTISM SPECTRUM DISORDERS; DEVELOPING CEREBRAL-CORTEX; DE-NOVO MUTATIONS; CENTRAL-NERVOUS-SYSTEM; SUBCORTICAL PROJECTION NEURONS; GENE FEZ-LIKE; WHITE-MATTER; RADIAL GLIA; HUMAN BRAIN; INTELLECTUAL DISABILITY AB Autism spectrum disorders (ASDs) impair social cognition and communication, key higher-order functions centered in the human neocortex. The assembly of neocortical circuitry is a precisely regulated developmental process susceptible to genetic alterations that can ultimately affect cognitive abilities. Because ASD is an early onset neurodevelopmental disorder that disrupts functions executed by the neocortex, miswiring of neocortical circuits has been hypothesized to be an underlying mechanism of ASD. This possibility is supported by emerging genetic findings and data from imaging studies. Recent research on neocortical development has identified transcription factors as key determinants of neocortical circuit assembly, mediating diverse processes including neuronal specification, migration, and wiring. Many of these TFs (TBR1, SOX5, FEZF2, and SATB2) have been implicated in ASD. Here, I will discuss the functional roles of these transcriptional programs in neocortical circuit development and their neurobiological implications for the emerging etiology of ASD. C1 Univ Michigan, Dept Human Genet, MBNI, Ann Arbor, MI 48109 USA. RP Kwan, KY (reprint author), Univ Michigan, Dept Human Genet, MBNI, Ann Arbor, MI 48109 USA. 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Rev. Neurobiol. PY 2013 VL 113 BP 167 EP 205 DI 10.1016/B978-0-12-418700-9.00006-X PG 39 WC Neurosciences SC Neurosciences & Neurology GA BJP98 UT WOS:000329549100007 PM 24290386 ER PT S AU Chukoskie, L Townsend, J Westerfield, M AF Chukoskie, Leanne Townsend, Jeanne Westerfield, Marissa BE Konopka, G TI Motor Skill in Autism Spectrum Disorders: A Subcortical View SO NEUROBIOLOGY OF AUTISM SE International Review of Neurobiology LA English DT Review; Book Chapter ID DEVELOPMENTAL COORDINATION DISORDER; HIGH-FUNCTIONING AUTISM; ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; DEFICIT HYPERACTIVITY DISORDER; PURSUIT EYE-MOVEMENT; BASAL GANGLIA; POSTURAL CONTROL; ASPERGER-SYNDROME; INFANTILE-AUTISM; CEREBRAL-CORTEX AB The earliest observable symptoms of autism spectrum disorders (ASDs) involve motor behavior. There is a growing awareness of the developmental importance of impaired motor function in ASD and its association with social skill. Compromised motor function requires increased attention, leaving fewer resources available for processing environmental stimuli and learning. This knowledge suggests that the motor system which we know to be trainable-may be a gateway to improving outcomes of individuals living with ASD. In this review, we suggest a framework borrowed from machine learning to examine where, why, and how motor skills are different in individuals with ASD. C1 [Chukoskie, Leanne; Westerfield, Marissa] Univ Calif San Diego, Inst Neural Computat, San Diego, CA 92103 USA. [Townsend, Jeanne] Univ Calif San Diego, Dept Neurosci, San Diego, CA 92103 USA. RP Chukoskie, L (reprint author), Univ Calif San Diego, Inst Neural Computat, San Diego, CA 92103 USA. 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Rev. Neurobiol. PY 2013 VL 113 BP 207 EP 249 DI 10.1016/B978-0-12-418700-9.00007-1 PG 43 WC Neurosciences SC Neurosciences & Neurology GA BJP98 UT WOS:000329549100008 PM 24290387 ER PT S AU Bill, BR Lowe, JK DyBuncio, CT Fogel, BL AF Bill, Brent R. Lowe, Jennifer K. DyBuncio, Christina T. Fogel, Brent L. BE Konopka, G TI Orchestration of Neurodevelopmental Programs by RBFOX1: Implications for Autism Spectrum Disorder SO NEUROBIOLOGY OF AUTISM SE International Review of Neurobiology LA English DT Review; Book Chapter ID GENOME-WIDE ASSOCIATION; COPY NUMBER VARIANTS; RNA-BINDING MOTIFS; SPLICING FACTORS; CAENORHABDITIS-ELEGANS; MENTAL-RETARDATION; CANDIDATE GENES; INCREASE RISK; PROTEIN; SCHIZOPHRENIA AB Neurodevelopmental and neuropsychiatric disorders result from complex interactions between critical genetic factors and as-yet-unknown environmental components. To gain clinical insight, it is critical to develop a comprehensive understanding of these genetic components. RBFOX1, an RNA splicing factor, regulates expression of large genetic networks during early neuronal development, and haploinsufficiency causes severe neurodevelopmental phenotypes including autism spectrum disorder (ASD), intellectual disability, and epilepsy. Genomic testing in individuals and large patient cohorts has identified phenotypically similar cases possessing copy number variations in RBFOX1, implicating the gene as an important cause of neurodevelopmental disease. However, a significant proportion of the observed structural variation is inherited from phenotypically normal individuals, raising questions regarding overall pathogenicity of variation at the RBFOX1 locus. In this chapter, we discuss the molecular, cellular, and clinical evidence supporting the role of RBFOX1 in neurodevelopment and present a comprehensive model for the contribution of structural variation in RBFOX1 to ASD. C1 [Bill, Brent R.; Lowe, Jennifer K.; DyBuncio, Christina T.] Univ Calif Los Angeles, David Geffen Sch Med, Ctr Autism Res & Treatment, Dept Psychiat, Los Angeles, CA 90095 USA. [Bill, Brent R.; Lowe, Jennifer K.; DyBuncio, Christina T.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Ctr Neurobehav Genet, Los Angeles, CA 90024 USA. [Lowe, Jennifer K.; DyBuncio, Christina T.; Fogel, Brent L.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA. RP Fogel, BL (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Program Neurogenet, Los Angeles, CA 90095 USA. 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Rev. Neurobiol. PY 2013 VL 113 BP 251 EP 267 DI 10.1016/B978-0-12-418700-9.00008-3 PG 17 WC Neurosciences SC Neurosciences & Neurology GA BJP98 UT WOS:000329549100009 PM 24290388 ER PT S AU Hsiao, EY AF Hsiao, Elaine Y. BE Konopka, G TI Immune Dysregulation in Autism Spectrum Disorder SO NEUROBIOLOGY OF AUTISM SE International Review of Neurobiology LA English DT Review; Book Chapter ID MAJOR HISTOCOMPATIBILITY COMPLEX; CONGENITAL CYTOMEGALOVIRUS-INFECTION; DORSOLATERAL PREFRONTAL CORTEX; LYMPHOBLASTOID CELL-LINES; FRAGILE-X-SYNDROME; GENE-EXPRESSION; MATERNAL AUTOANTIBODIES; BRAIN-DEVELOPMENT; TWIN PAIRS; MICROGLIAL ACTIVATION AB Autism spectrum disorder (ASD) is a highly heterogeneous disorder diagnosed based on the presence and severity of core abnormalities in social communication and repetitive behavior, yet several studies converge on immune dysregulation as a feature of ASD. 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Rev. Neurobiol. PY 2013 VL 113 BP 303 EP 318 DI 10.1016/B978-0-12-418700-9.00010-1 PG 16 WC Neurosciences SC Neurosciences & Neurology GA BJP98 UT WOS:000329549100011 PM 24290390 ER PT J AU Langdon, PE Murphy, GH Wilson, E Shepstone, L Fowler, D Heavens, D Malovic, A Russell, A AF Langdon, Peter E. Murphy, Glynis H. Wilson, Edward Shepstone, Lee Fowler, David Heavens, David Malovic, Aida Russell, Alexandra TI Asperger syndrome and anxiety disorders (PAsSA) treatment trial: a study protocol of a pilot, multicentre, single-blind, randomised crossover trial of group cognitive behavioural therapy SO BMJ OPEN LA English DT Article DE Asperger Sydrome; Anxiety disorders < PSYCHIATRY; Cognitive Behavioural Therapy; Randomised Control Trial; Protocol ID AUTISM SPECTRUM DISORDERS; SOCIAL PHOBIA SCALE; PSYCHOMETRIC PROPERTIES; PANIC DISORDER; RATING SCALE; PRIMARY-CARE; CHILDREN; ADULTS; AGORAPHOBIA; HEALTH AB Introduction A number of studies have established that children, adolescents and adults with Asperger syndrome (AS) and high functioning autism (HFA) have significant problems with anxiety. Cognitive behavioural therapy (CBT) is an effective treatment for anxiety in a variety of clinical populations. There is a growing interest in exploring the effectiveness of CBT for people with AS who have mental health problems, but currently there are no known clinical trials involving adults with AS or HFA. Studies with children who have AS have reported some success. The current study aims to examine whether modified group CBT for clinically significant anxiety in an AS population is likely to be efficacious. Methods and analysis This study is a randomised, single-blind crossover trial. At least 36 individuals will be recruited and randomised into a treatment arm or a waiting-list control arm. During treatment, individuals will receive 3 sessions of individual CBT, followed by 21 sessions of group CBT. Primary outcome measures focus on anxiety. Secondary outcome measures focus on everyday social and psychiatric functioning, additional measures of anxiety and fear, depression, health-related quality of life and treatment cost. Assessments will be administered at pregroup and postgroup and at follow-up by researchers who are blinded to group allocation. The trial aims to find out whether or not psychological treatments for anxiety can be adapted and used to successfully treat the anxiety experienced by people with AS. Furthermore, we aim to determine whether this intervention represents good value for money. Ethics and dissemination The trial received a favourable ethical opinion from a National Health Service (NHS) Research Ethics Committee. All participants provided written informed consent. Findings will be shared with all trial participants, and the general public, as well as the scientific community. Trial Registration ISRCTN 30265294 (DOI: 10.1186/ISRCTN30265294), UKCRN 8370. C1 [Langdon, Peter E.; Russell, Alexandra] Univ E Anglia, Dept Psychol Sci, Norwich Med Sch, Norwich NR4 7TJ, Norfolk, England. [Langdon, Peter E.; Russell, Alexandra] Hertfordshire Partnership NHS Fdn Trust, Broadland Clin, Norwich, Norfolk, England. [Murphy, Glynis H.; Malovic, Aida] Univ Kent, Tizard Ctr, Canterbury, Kent, England. [Wilson, Edward; Shepstone, Lee] Univ E Anglia, Norwich Med Sch, Dept Populat Hlth & Primary Care, Norwich NR4 7TJ, Norfolk, England. [Fowler, David; Heavens, David] Norfolk & Suffolk NHS Fdn Trust, Norwich, Norfolk, England. RP Langdon, PE (reprint author), Univ E Anglia, Dept Psychol Sci, Norwich Med Sch, Norwich NR4 7TJ, Norfolk, England. EM P.Langdon@uea.ac.uk RI Wilson, Ed/N-9341-2014 OI Wilson, Ed/0000-0002-8369-1577 FU National Institute for Health Research (NIHR) [PB-PG-1208-18024]; National Institute for Health Research Postdoctoral Fellowship FX This article presents independent research funded by the National Institute for Health Research (NIHR) Research for Patient Benefit programme (Grant Reference: PB-PG-1208-18024). 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However, over the last decade or so, a considerable amount of research has explored general similarities or specific areas of overlap between children with SLI and ASD based on language and cognitive profiles, neuroimaging findings, and genetic research. The clinical classification schemes that are used to identify the children necessarily influence the extent to which SLI and ASD are viewed as overlapping or distinct conditions. Yet, the criteria used to diagnose these two populations vary across countries and even across investigators within a given country. This necessarily impacts the findings from comparative investigations of these groups. With these challenges in mind, clinical implications of evidence for similarities and distinctions between children with SLI and ASD will be discussed with respect to differential diagnosis and treatment. (C) 2013 S. Karger AG, Basel C1 Univ Wisconsin, Dept Commun Sci & Disorders, Waisman Ctr, Madison, WI 53705 USA. 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PY 2013 VL 65 IS 2 BP 68 EP 77 DI 10.1159/000353896 PG 10 WC Audiology & Speech-Language Pathology; Otorhinolaryngology; Rehabilitation SC Audiology & Speech-Language Pathology; Otorhinolaryngology; Rehabilitation GA 295QM UT WOS:000330130600003 ER PT J AU Brand, T Barzynski, E Fuhrlander, S Hecke, D Schultz-Venrath, U AF Brand, Tanja Barzynski, Elke Fuhrlaender, Sarah Hecke, Dagmar Schultz-Venrath, Ulrich TI Psychodynamic Versus Mentalization Based Group Psychotherapy - Mental Health Services Research in a Day Hospital SO GRUPPENPSYCHOTHERAPIE UND GRUPPENDYNAMIK LA German DT Article DE mentalization based group psychotherapy; psychodynamic group psychotherapy; manual; adherence; day clinic ID BORDERLINE PERSONALITY-DISORDER; INPATIENT GROUP-PSYCHOTHERAPY; RANDOMIZED CONTROLLED-TRIAL; EMOTIONAL AWARENESS SCALE; SPECTRUM QUOTIENT AQ; FOLLOW-UP; TREATMENT INTEGRITY; CLINICAL-TRIAL; VERSION; AUTISM AB Group psychotherapy research in a day treatment setting is confronted with a series of problems. 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PY 2013 VL 49 IS 4 BP 350 EP 369 PG 20 WC Psychology, Clinical SC Psychology GA 292EQ UT WOS:000329885400005 ER PT J AU Claudon, P Floquet, B Muguet, V Recouvreur, B Maire, S Dekkoumi, S Lawson, FB AF Claudon, Philippe Floquet, Brigitte Muguet, Vanessa Recouvreur, Beatrice Maire, Sylvie Dekkoumi, Sonia Lawson, Festus Body TI A METHOD FOR CLINICAL CASE STUDY IN CHILD PSYCHIATRY: ANALYSIS OF THE EXPRESSION OF SELF AND OF "ONE'S OWN BODY" IN THE AUTISTIC CHILD AT AGE 7 BY WAY OF THE PRESENTATION OF 15 PERSON-DRAWINGS SO PSYCHIATRIE DE L ENFANT LA French DT Article DE Autism; Body; Person-drawings; Clinical method ID MOTHER; BABY AB We present a clinical case study of a severely autistic child, observed during a therapeutic workshop of body-mediation (baths and massages) over a period of 15 sessions. To carry this study out, we propose a method of clinical analysis based on a psychosomatic approach of the functioning of thought process and identity. 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Enfant PY 2013 VL 56 IS 2 BP 603 EP 638 PG 36 WC Psychiatry SC Psychiatry GA 292IB UT WOS:000329894300013 ER PT J AU Figueroa, AM Juarez-Ramirez, R AF Mejia Figueroa, Andres Juarez-Ramirez, Reyes TI Teaching Human-Computer Interaction through developing Applications in Collaboration between Academy and Autism Organizations SO INTERNATIONAL JOURNAL OF ENGINEERING EDUCATION LA English DT Article DE collaboration between academia and autism organizations; user-centered design; teaching Human-Computer Interaction AB Human-Computer Interaction is a discipline that is getting more interest nowadays, not only because the proliferation of computer science but also due the proliferation of new technological devices that require user-friendly interfaces. Furthermore, new technology is enabling us to attend needs of special groups with specific impairments, such as autistic users. Most efforts have been made in order to integrate curricula for this discipline; also most efforts have been made in the teaching context of these themes. However, it is necessary to continue improving teaching practices, integrating research and good practices from real environments. In this paper we present some experiences in teaching Human-Computer Interaction and Usability Engineering in conjunction with Software Development. Our teaching experiences involve real projects in collaboration with a specialized organization in autism. This teaching environment allows students to interact with end users, making sense of how useful is applying user interface design principles in order to facilitate the life of users with special capabilities. C1 [Mejia Figueroa, Andres; Juarez-Ramirez, Reyes] Autonomous Univ Baja Calif, Ensenada 22390, Baja California, Mexico. 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Abd El-Hamid, Sawsan Salem, Sohair TI Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients SO SCIENTIFIC WORLD JOURNAL LA English DT Article ID DOPAMINE-D-2 RECEPTOR POLYMORPHISM; MONOAMINE-OXIDASE-A; FUNCTIONAL POLYMORPHISM; THERAPEUTIC RESPONSE; SPECTRUM DISORDERS; INTRON 13; B GENE; ASSOCIATION; MAOA; CHILDREN AB Autism is a neurodevelopmental disorder with indisputable evidence for a genetic component. This work studied the association of autism with genetic variations in neurotransmitter-related genes, including MAOA uVNTR, MAOB rs1799836, and DRD2 TaqI A in 53 autistic patients and 30 healthy individuals. The study also analyzed sequence variations of miR-431 and miR-21. MAOA uVNTR was genotyped by PCR, MAOB and DRD2 polymorphisms were analyzed by PCR-based RFLP, and miR-431 and miR-21 were sequenced. Low expressing allele of MAOA uVNTR was frequently higher in female patients compared to that in controls (OR = 2.25). MAOB G allele frequency was more significantly increased in autistic patients than in controls (P < 0.001 for both males and females). DRD2 A1+ genotype increased autism risk (OR = 5.1). Severity of autism tends to be slightly affected by MAOA/B genotype. Plasma MAOB activity was significantly reduced in G than in A allele carrying males. There was no significant difference in patients and maternal plasma MAOA/B activity compared to controls. Neither mutations nor SNPs in miR-431 and miR-21 were found among studied patients. This study threw light on some neurotransmitter-related genes suggesting their potential role in Autism pathogenesis that warrants further studies and much consideration. C1 [Salem, Ahmed M.; Sayed, Ahmed A.] Ain Shams Univ, Dept Biochem, Cairo, Egypt. [Ismail, Samira] Natl Res Ctr, Dept Clin Genet, Giza, Egypt. [Zarouk, Waheba A.; Abd El-Hamid, Sawsan; Salem, Sohair] Natl Res Ctr, Dept Mol Genet, Giza, Egypt. 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PY 2013 VL 1304 BP 32 EP 39 DI 10.1111/nyas.12296 PG 8 WC Clinical Neurology; Pediatrics; Psychology SC Neurosciences & Neurology; Pediatrics; Psychology GA BJQ16 UT WOS:000329608800005 PM 24175754 ER PT J AU Purzycki, BG Sosis, R AF Purzycki, Benjamin G. Sosis, Richard TI The extended religious phenotype and the adaptive coupling of ritual and belief SO ISRAEL JOURNAL OF ECOLOGY & EVOLUTION LA English DT Article DE cognition; extended phenotype; niche construction; religion; ritual ID SIGNALING THEORY; NICHE CONSTRUCTION; GOD CONCEPTS; MALE DISPLAY; EVOLUTION; COOPERATION; AUTISM; MIND; ANTHROPOLOGY; HYPOTHESIS AB In this paper, we consider the idea that religion is a transsomatic adaptation. At the genic level, the religious system constitutes an extended phenotype that has been fashioned by natural selection to overcome socioecological challenges inherent in human sociality, primarily problems of cooperation and coordination. At the collective level, the religious system constitutes a cognitive niche. We begin our discussion focusing on the former and concentrate our attention on the "sacred coupling" of supernatural agency and ritual behavior. We detail the complex connections between genes, cognitive faculties, and their expression in religious contexts, followed by a discussion of how religious ritual functions to maintain relative social order. We conclude with a discussion about the relevance of niche construction theory for understanding the adaptive nature of religious systems. C1 [Purzycki, Benjamin G.] Univ British Columbia, Ctr Human Evolut Cognit & Culture, Vancouver, BC V6T 1Z2, Canada. [Sosis, Richard] Univ Connecticut, Dept Anthropol, Storrs, CT 06269 USA. RP Purzycki, BG (reprint author), Univ British Columbia, Ctr Human Evolut Cognit & Culture, 1871 West Mall, Vancouver, BC V6T 1Z2, Canada. 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PY 2013 VL 59 IS 2 SI SI BP 99 EP 108 DI 10.1080/15659801.2013.825433 PG 10 WC Ecology; Evolutionary Biology SC Environmental Sciences & Ecology; Evolutionary Biology GA 285IX UT WOS:000329388500006 ER PT S AU Hodapp, RM Goldman, SE Urbano, RC AF Hodapp, Robert M. Goldman, Samantha E. Urbano, Richard C. BE Urbano, RC TI Using Secondary Datasets in Disability Research: Special Issues, Special Promise SO USING SECONDARY DATASETS TO UNDERSTAND PERSONS WITH DEVELOPMENTAL DISABILITIES AND THEIR FAMILIES SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID FRAGILE-X-SYNDROME; AUTISM SPECTRUM DISORDER; MILD INTELLECTUAL DEFICITS; DOWN-SYNDROME; DEVELOPMENTAL-DISABILITIES; MENTAL-RETARDATION; CHRONIC DISEASE; NATIONAL-SURVEY; ADULT SIBLINGS; YOUNG-ADULTS AB This chapter describes how secondary datasets and analyses can be helpful within the field of intellectual and developmental disabilities. Beginning with definitional issues, we discuss the ways in which secondary datasets have both advantages (cost-effective data collection, personal advantages, growing numbers of such datasets) and disadvantages (researcher not involved in sampling procedures, constructs examined, or questions posed). Recent years have seen increasing numbers of intellectual disability articles analyzing large-scale databases, but the subfield retains a feel of being wide but shallow. Current initiatives focus on generating registries, databanks, and other large-scale datasets, and we describe here three such initiatives (Project IAN, National Fragile X Survey, NDAR). Increasingly, large-scale, secondary datasets are helping researchers address the need for information concerning individuals with intellectual disabilities and their families. C1 [Hodapp, Robert M.; Goldman, Samantha E.; Urbano, Richard C.] Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA. [Hodapp, Robert M.; Goldman, Samantha E.] Vanderbilt Univ, Peabody Coll, Dept Special Educ, Nashville, TN 37203 USA. [Urbano, Richard C.] Vanderbilt Univ, Sch Med, Vanderbilt Kennedy Ctr, Dept Pediat Dev Med, Nashville, TN 37212 USA. RP Hodapp, RM (reprint author), Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA. 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Rev. Res. Dev. Disabil. PY 2013 VL 45 BP 1 EP 34 DI 10.1016/B978-0-12-407760-7.00001-3 PG 34 WC Education, Special; Psychology, Multidisciplinary SC Education & Educational Research; Psychology GA BJN47 UT WOS:000329255200002 ER PT S AU Novikova, SI Richman, DM Supekar, K Barnard-Brak, L Hall, D AF Novikova, S. I. Richman, D. M. Supekar, K. Barnard-Brak, L. Hall, D. BE Urbano, RC TI NDAR: A Model Federal System for Secondary Analysis in Developmental Disabilities Research SO USING SECONDARY DATASETS TO UNDERSTAND PERSONS WITH DEVELOPMENTAL DISABILITIES AND THEIR FAMILIES SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID ABERRANT BEHAVIOR CHECKLIST; AUTISM SPECTRUM DISORDERS; SELF-INJURIOUS-BEHAVIOR; EXECUTIVE FUNCTIONS; MISSING DATA; CHILDREN; CLASSIFICATION; INDIVIDUALS; SEVERITY; ADHD AB The National Database for Autism Research (NDAR) is a human-subject data repository on tens of thousands of research participants. Approved researchers have access to an unprecedented volume of item-level clinical, genomic, and imaging data. Data are shared quickly using both a common data standard and innovative tools for experiment definition, which provide the level of detail needed for efficient use of the repository. As described, early adopters have used it to conduct secondary data analysis. Now, with an ever-increasing volume of research data being made available, and new methods for data query, data download, and computation in place, this initiative is becoming vital to those interested in scientific discovery in autism or is being used as a model by other research communities. C1 [Novikova, S. I.; Hall, D.] OMNITEC Solut Inc, NIMH, Natl Database Autism Res, Rockville, MD USA. [Richman, D. M.; Barnard-Brak, L.] Texas Tech Univ, Lubbock, TX 79409 USA. [Supekar, K.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Stanford, CA 94305 USA. 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Rev. Res. Dev. Disabil. PY 2013 VL 45 BP 123 EP 153 DI 10.1016/B978-0-12-407760-7.00003-7 PG 31 WC Education, Special; Psychology, Multidisciplinary SC Education & Educational Research; Psychology GA BJN47 UT WOS:000329255200004 ER PT S AU Griffin, MM Steinbrecher, TD AF Griffin, Megan M. Steinbrecher, Trisha D. BE Urbano, RC TI Large-Scale Datasets in Special Education Research SO USING SECONDARY DATASETS TO UNDERSTAND PERSONS WITH DEVELOPMENTAL DISABILITIES AND THEIR FAMILIES SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID AUTISM SPECTRUM DISORDER; EARLY INTERVENTION; DEVELOPMENTAL-DISABILITIES; STUDENTS; CHILDREN; YOUTH; PARTICIPATION; PREVALENCE; SERVICES AB Large-scale datasets are integral to building a national understanding of the educational experiences of children and youth with disabilities. These datasets often include a wealth of variables, and many allow the researcher to examine change over time; however, implementing large-scale dataset studies can be challenging for both novice and experienced researchers. In this chapter, we begin by reviewing several large-scale, national datasets related to education that include children and youth with disabilities. We then outline a variety of benefits, challenges, and considerations for investigators who are in the initial stages of conducting research with large-scale datasets. Next, we present an example detailing the preliminary steps in analyzing large-scale data. The chapter concludes with a brief discussion of other datasets that do not focus on educational issues; we address their potential utility for special education researchers, and discuss recently developed resources to assist new investigators in using these data sources. C1 [Griffin, Megan M.; Steinbrecher, Trisha D.] Univ New Mexico, Dept Educ Specialties, Special Educ Program, Albuquerque, NM 87131 USA. RP Griffin, MM (reprint author), Univ New Mexico, Dept Educ Specialties, Special Educ Program, Albuquerque, NM 87131 USA. EM griffinm@unm.edu CR [Anonymous], DAT TABL Aud S., 2012, 2012045 NCES US DEP Bailey DB, 2004, PEDIATRICS, V113, P887, DOI 10.1542/peds.113.4.887 Bouck EC, 2011, EDUC TRAIN AUTISM DE, V46, P399 Bowman-Perrott L., 2011, J EMOT BEHAV DISORD, V21, P83 Boyle CA, 2011, PEDIATRICS, V127, P1034, DOI 10.1542/peds.2010-2989 Brown T. A., 2006, CONFIRMATORY FACTOR Buckley J. A., 2007, 2007005 NCES Butterworth J., 2012, STATEDATA NATL REPOR Daley TC, 2009, EXCEPT CHILDREN, V75, P412 Early Childhood Longitudinal Study (ECLS) Program, SAMPL SEL Feinberg E, 2011, J DEV BEHAV PEDIATR, V32, P284, DOI 10.1097/DBP.0b013e3182142fbd Feinberg E, 2012, MATERN CHILD HLTH J, V16, P336, DOI 10.1007/s10995-010-0715-3 Fuchs L., 2008, J DISABIL POLICY STU, V19, P153, DOI DOI 10.1177/1044207308327471 Graham J. W., 2003, HDB PSYCHOL RES METH, V2, P87, DOI DOI 10.1002/0471264385.WEI0204 Graham JW, 2007, PREV SCI, V8, P206, DOI 10.1007/s11121-007-0070-9 Griffin M. M., 2013, J SPECIAL ED Gullo D. F., 2013, EARLY CHILDHOOD ED J, P1 Halle T, 2009, DISPARITIES EARLY LE Hamiliton L. S., 2006, MAKING SENSE DATA DR Hebbeler K., 2007, EARLY INTERVENTION I Hibel J, 2010, SOCIOL EDUC, V83, P312, DOI 10.1177/0038040710383518 Hodapp RM, 2009, INT REV RES MENT RET, V37, P131, DOI 10.1016/S0074-7750(09)37005-6 Karpur A., 2013, NEW RES TOOLS EXPLOR Kline R. 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D., 2012, DISS ABSTR INT A, P73 Steinbrecher TD, 2013, EXCEPT CHILDREN, V79, P313 Stump K. N., 2008, MISSING DATA LARGE D Tabachnick B., 2007, USING MULTIVARIATE S, V5th Tourangeau K, 2006, 2006032 NCES Vanderwood M, 1998, EXCEPT CHILDREN, V64, P359 Wagner M, 2012, J DISABIL POLICY STU, V23, P140, DOI 10.1177/1044207311425384 Wagner M., 2004, OVERVIEW FINDINGS WA Wagner M, 2012, PSYCHIATR REHABIL J, V35, P199, DOI 10.2975/35.3.2012.199.208 West J., 2001, KINDERGARTEN YEAR West J., 2004, 2005036 NCES US DEP Woythaler MA, 2011, PEDIATRICS, V127, pE622, DOI 10.1542/peds.2009-3598 NR 54 TC 0 Z9 0 PU ELSEVIER ACADEMIC PRESS INC PI SAN DIEGO PA 525 B STREET, SUITE 1900, SAN DIEGO, CA 92101-4495 USA SN 2211-6095 BN 978-0-12-407760-7 J9 INT REV RES DEV DISA JI Int. Rev. Res. Dev. Disabil. PY 2013 VL 45 BP 155 EP 183 DI 10.1016/B978-0-12-407760-7.00004-9 PG 29 WC Education, Special; Psychology, Multidisciplinary SC Education & Educational Research; Psychology GA BJN47 UT WOS:000329255200005 ER PT S AU Parish, SL Magana, S Swaine, JG Son, E AF Parish, Susan L. Magana, Sandra Swaine, Jamie G. Son, Esther BE Urbano, RC TI Studying Racial and Ethnic Health Care Disparities Among Children with Intellectual and Developmental Disabilities Using the National Survey of Children with Special Health Care Needs SO USING SECONDARY DATASETS TO UNDERSTAND PERSONS WITH DEVELOPMENTAL DISABILITIES AND THEIR FAMILIES SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID FAMILY-CENTERED CARE; MEDICAL HOME; UNITED-STATES; FINANCIAL BURDEN; LATINO CHILDREN; AUTISM; ACCESS; QUALITY; SERVICES; YOUTH AB Background:There is strong evidence that racial and ethnic minorities have worse health care and health outcomes in the United States. However, little is known about racial and ethnic disparities among children with intellectual and developmental disabilities. Method: Using data from the 2009/2010 National Survey of Children with Special Health Care Needs, we examined racial and ethnic disparities in the receipt of a medical home among children with intellectual and developmental disabilities, whether these disparities are moderated by family income, and the impact of parent's language on disparities among the Latino sample. Descriptive bivariate and multivariate logistic regression analyses were performed. Results: There were significant racial disparities in health outcomes between Black and White children and Latino and non-Latino White children. The majority of children in the study, regardless of race or ethnicity, did not meet the criteria for having a medical home. Only 31% of White, 23% of Black children, and 22% of Latino children had a medical home. Racial and ethnic disparities in usual source of care were exacerbated at lower income levels. Surprisingly, Spanish-speaking Latino parents were more likely to report their child had a personal doctor than English-speaking Latino parents. Conclusion: This study provides evidence of racial and ethnic health care disparities among children with intellectual and developmental disabilities. Furthermore, this study provides troubling evidence of the small percentage of children in this population who meet medical home criteria. Assertive policy and practice measures are needed not only to reduce racial and ethnic disparities but also to increase the number of children with intellectual and developmental disabilities who have a medical home. C1 [Parish, Susan L.; Swaine, Jamie G.; Son, Esther] Brandeis Univ, Heller Sch Social Policy & Management, Lurie Inst Disabil Policy, Boston, MA USA. [Magana, Sandra] Univ Illinois, Dept Disabil & Human Dev, Chicago, IL USA. [Swaine, Jamie G.] Univ N Carolina, Sch Social Work, Chapel Hill, NC USA. RP Parish, SL (reprint author), Brandeis Univ, Heller Sch Social Policy & Management, Lurie Inst Disabil Policy, Boston, MA USA. EM slp@Brandeis.edu CR Acevedo-Garcia D, 2008, HEALTH AFFAIR, V27, P321, DOI [10.1377/hlthaff.27.2.321, 10.1077/hlthaff.27.2.321] Agency for Health care Research and Quality, 2011, AHRQ PUBL, V10(11)-EHC063-EF American Academy of Family Physicians American Academy of Pediatrics American College of Physicians & American Osteopathic Association, 2007, JOINT PRINC PAT CTR Sia CJ, 2002, PEDIATRICS, V110, P184 DICKENS MD, 1992, PEDIATRICS, V90, P774 American Academy of Pediatrics Medical Home Initiatives for Children With Special Needs Project Advisory Committee, 2004, PEDIATRICS, V113, P1545 Berdahl T, 2010, ACAD PEDIATR, V10, P95, DOI 10.1016/j.acap.2009.12.005 Blumberg SJ, 2008, VITAL HLTH STAT, V1, P1 Centers for Disease Control and Prevention National Center for Health Statistics, 2011, 2009 2010 NAT SURV C Coker TR, 2010, PEDIATRICS, V125, P1159, DOI 10.1542/peds.2009-1994 Commission on Social Determinants of Health, 2008, CLOS GAP GEN HLTH EQ Cooley WC, 2009, PEDIATRICS, V124, P358, DOI 10.1542/peds.2008-2600 DeCamp LR, 2011, J HEALTH CARE POOR U, V22, P1151, DOI 10.1353/hpu.2011.0113 Flores G, 2010, PEDIATRICS, V125, pE979, DOI 10.1542/peds.2010-0188 Heidgerken AD, 2005, J AUTISM DEV DISORD, V35, P323, DOI 10.1007/s10803-005-3298-x Homer CJ, 2008, PEDIATRICS, V122, pE922, DOI 10.1542/peds.2007-3762 Kenney MK, 2011, ACAD PEDIATR, V11, P144, DOI 10.1016/j.acap.2010.08.001 Lee E. 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PY 2013 VL 45 BP 185 EP 224 DI 10.1016/B978-0-12-407760-7.00005-0 PG 40 WC Education, Special; Psychology, Multidisciplinary SC Education & Educational Research; Psychology GA BJN47 UT WOS:000329255200006 ER PT S AU Leonard, H Glasson, E Bebbington, A Hammond, G Croft, D Pikora, T Fairthorne, J O'Donnell, M O'Leary, C Hansen, M Watson, L Francis, RW Carter, KW McKenzie, A Bower, C Bourke, J AF Leonard, Helen Glasson, Emma Bebbington, Ami Hammond, Geoff Croft, Deirdre Pikora, Terri Fairthorne, Jenny O'Donnell, Melissa O'Leary, Colleen Hansen, Michele Watson, Linda Francis, Richard W. Carter, Kim W. McKenzie, Anne Bower, Carol Bourke, Jenny BE Urbano, RC TI Application of Population-Based Linked Data to the Study of Intellectual Disability and Autism SO USING SECONDARY DATASETS TO UNDERSTAND PERSONS WITH DEVELOPMENTAL DISABILITIES AND THEIR FAMILIES SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID FETAL ALCOHOL SYNDROME; IN-VITRO FERTILIZATION; INTRACYTOPLASMIC SPERM INJECTION; NEURAL-TUBE DEFECTS; WESTERN-AUSTRALIA; CEREBRAL-PALSY; SPECTRUM DISORDERS; MENTAL-RETARDATION; BIRTH-DEFECTS; CHILD MALTREATMENT AB Data linkage is the bringing together of specific datasets from different sources using demographic information on individuals within a population. In Western Australia, systematic record linkages between multiple datasets including births, deaths, and hospital morbidity have occurred since 1997. Linkage to other population datasets related to intellectual disability and autism provides an infrastructure to undertake research in this area. The purpose of this chapter is to use the Western Australian experience to describe the potential of data linkage to improve the understanding of the epidemiology of intellectual disability and autism. Information is provided on the core datasets and specific disability registers available in Western Australia. Some recently developed novel initiatives are also described. One of these involves the linkage of data from a number of other Western Australian jurisdictions such as education, child protection, and justice in addition to health. The other uses a federated approach, developed by the bioinformatics team at the Tele-thon Institute for Child Health Research, to enable analysis of autism risk factors from international population-based datasets without the data leaving its home base. Examples of published research examining both determinants and outcomes of intellectual disability and autism are reported as well as information on several studies, which are in the planning stages. We also include a section on some of the challenges of data management and describe some of the statistical techniques that have been used. Studies investigating sociodemographic factors, prenatal growth, alcohol exposure, and maternal physical health have identified risk factors associated with intellectual disability and autism. Analyses of outcomes for these children have shown an increased risk of hospitalizations from two to ten times that of the rest of the population. For those with Down syndrome, a quarter of their admissions occurred in the first year of life, with upper respiratory tract infections being the most common cause. Non-Aboriginal children with intellectual disability were shown to have a threefold risk of substantiated child maltreatment and Aboriginal children a twofold risk, after taking parental factors into account. Linked data studies using population data on intellectual disability and autism can help understand the complex multidimensional factors contributing to different outcomes for this particularly vulnerable and underresearched population and provide valuable information for informing policies and programs. C1 [Leonard, Helen; Glasson, Emma; Bebbington, Ami; Hammond, Geoff; Croft, Deirdre; Pikora, Terri; Fairthorne, Jenny; O'Donnell, Melissa; O'Leary, Colleen; Hansen, Michele; Watson, Linda; Francis, Richard W.; Carter, Kim W.; McKenzie, Anne; Bower, Carol; Bourke, Jenny] Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA, Australia. [McKenzie, Anne] Univ Western Australia, Sch Populat Hlth, Perth, WA, Australia. RP Leonard, H (reprint author), Univ Western Australia, Ctr Child Hlth Res, Telethon Inst Child Hlth Res, Perth, WA, Australia. 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Rev. Res. Dev. Disabil. PY 2013 VL 45 BP 281 EP 327 DI 10.1016/B978-0-12-407760-7.00008-6 PG 47 WC Education, Special; Psychology, Multidisciplinary SC Education & Educational Research; Psychology GA BJN47 UT WOS:000329255200009 ER PT S AU Urbano, RC AF Urbano, Richard C. BE Urbano, RC TI Large-Scale Datasets Referenced in Volume 45 of the International Review of Research in Developmental Disabilities SO USING SECONDARY DATASETS TO UNDERSTAND PERSONS WITH DEVELOPMENTAL DISABILITIES AND THEIR FAMILIES SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID SPECIAL-EDUCATION; DOWN-SYNDROME; PREDICTORS; CHILDREN; AUTISM AB This chapter characterizes over 20 datasets referenced in this volume and reviews recurring themes across this volume. Six themes addressed by one or more authors are presented: coverage (variables measured and ages of subjects), definition of intellectual disabilities/developmental disabilities (ID/DD) (variables used to identify type of ID/DD and individuals affected), missing variables (information not recorded or reported), missing data (values not reported on existing variables), data harmonization (consistent definition and coding of variables across datasets), and-sample characteristics (sampling biases and subject selection). In addition, two tables summarize selected characteristics of each dataset: abbreviated dataset name, age range, measurement domains, countries of data collection, representative publications, complete dataset name, and home page Web address. C1 Vanderbilt Univ, Sch Med, Vanderbilt Kennedy Ctr, Dept Pediat Dev Med, Nashville, TN 37212 USA. RP Urbano, RC (reprint author), Vanderbilt Univ, Sch Med, Vanderbilt Kennedy Ctr, Dept Pediat Dev Med, Nashville, TN 37212 USA. 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Rev. Res. Dev. Disabil. PY 2013 VL 45 BP 329 EP 342 DI 10.1016/B978-0-12-407760-7.00009-8 PG 14 WC Education, Special; Psychology, Multidisciplinary SC Education & Educational Research; Psychology GA BJN47 UT WOS:000329255200010 ER PT J AU Sforza, C de Menezes, M Ferrario, VF AF Sforza, Chiarella de Menezes, Marcio Ferrario, Virgilio F. TI Soft- and hard-tissue facial anthropometry in three dimensions: what's new SO JOURNAL OF ANTHROPOLOGICAL SCIENCES LA English DT Review DE Human face; Morphometrics; 3D analysis ID BEAM COMPUTED-TOMOGRAPHY; UNILATERAL CLEFT-LIP; AUTISM SPECTRUM DISORDERS; NORTH SUDANESE SUBJECTS; AGE-RELATED-CHANGES; 3-DIMENSIONAL ANALYSIS; DOWN-SYNDROME; GEOMETRIC MORPHOMETRICS; SEXUAL-DIMORPHISM; HUMAN FACE AB In the last few years, technology has provided new instruments for the three-dimensional analysis of human facial morphology. Currently, quantitative assessments of dimensions, spatial positions and relative proportions of distinctive facial features can be obtained for both soft-and hard- (skeletal and dental) tissues. New mathematical tools allow to fuse digital data obtained from various image analyzers, thus providing quantitative information for anatomical and anthropometric descriptions, medical evaluations (clinical genetics, orthodontics, maxillo-facial and plastic surgery), and forensic medicine. C1 [Sforza, Chiarella; Ferrario, Virgilio F.] Univ Milan, LAFAS, FARC, Dipartimento Sci Biomed Salute,Fac Med & Chirurg, I-20122 Milan, Italy. [de Menezes, Marcio] Univ Fed Rio Grande do Sul, Dept Prevent & Social Dent, BR-90046900 Porto Alegre, RS, Brazil. [de Menezes, Marcio] State Univ Amazonas, Sch Hlth Sci, Manaus, Amazonas, Brazil. RP Sforza, C (reprint author), Univ Milan, LAFAS, FARC, Dipartimento Sci Biomed Salute,Fac Med & Chirurg, I-20122 Milan, Italy. 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PY 2013 VL 91 BP 159 EP 184 DI 10.4436/JASS.91007 PG 26 WC Anthropology SC Anthropology GA 278KW UT WOS:000328890200008 PM 23833019 ER PT J AU Ciccoli, L De Felice, C Paccagnini, E Leoncini, S Pecorelli, A Signorini, C Belmonte, G Guerranti, R Cortelazzo, A Gentile, M Zollo, G Durand, T Valacchi, G Rossi, M Hayek, J AF Ciccoli, Lucia De Felice, Claudio Paccagnini, Eugenio Leoncini, Silvia Pecorelli, Alessandra Signorini, Cinzia Belmonte, Giuseppe Guerranti, Roberto Cortelazzo, Alessio Gentile, Mariangela Zollo, Gloria Durand, Thierry Valacchi, Giuseppe Rossi, Marcello Hayek, Joussef TI Erythrocyte Shape Abnormalities, Membrane Oxidative Damage, and beta-Actin Alterations: An Unrecognized Triad in Classical Autism SO MEDIATORS OF INFLAMMATION LA English DT Article ID RETT-SYNDROME; SPECTRUM DISORDERS; LIPID-PEROXIDATION; STRESS; BLOOD; IRON; CELL; CHILDREN; REGION; BRAIN AB Autism spectrum disorders (ASDs) are a complex group of neurodevelopment disorders steadily rising in frequency and treatment refractory, where the search for biological markers is of paramount importance. Although red blood cells (RBCs) membrane lipidomics and rheological variables have been reported to be altered, with some suggestions indicating an increased lipid peroxidation in the erythrocyte membrane, to date no information exists on how the oxidative membrane damage may affect cytoskeletal membrane proteins and, ultimately, RBCs shape in autism. Here, we investigated RBC morphology by scanning electron microscopy in patients with classical autism, that is, the predominant ASDs phenotype (age range: 6-26 years), nonautistic neurodevelopmental disorders (i.e., "positive controls"), and healthy controls (i.e., "negative controls"). A high percentage of altered RBCs shapes, predominantly elliptocytes, was observed in autistic patients, but not in both control groups. The RBCs altered morphology in autistic subjects was related to increased erythrocyte membrane F-2-isoprostanes and 4-hydroxynonenal protein adducts. In addition, an oxidative damage of the erythrocyte membrane beta-actin protein was evidenced. Therefore, the combination of erythrocyte shape abnormalities, erythrocyte membrane oxidative damage, and beta-actin alterations constitutes a previously unrecognized triad in classical autism and provides new biological markers in the diagnostic workup of ASDs. C1 [Ciccoli, Lucia; Leoncini, Silvia; Pecorelli, Alessandra; Signorini, Cinzia; Zollo, Gloria] Univ Siena, Dept Mol & Dev Med, I-53100 Siena, Italy. [De Felice, Claudio] Univ Hosp, AOUS, Neonatal Intens Care Unit, I-53100 Siena, Italy. [Paccagnini, Eugenio] Univ Siena, Dept Life Sci, I-53100 Siena, Italy. [Leoncini, Silvia; Pecorelli, Alessandra; Cortelazzo, Alessio; Zollo, Gloria; Hayek, Joussef] Univ Hosp, Child Neuropsychiat Unit, I-53100 Siena, Italy. [Belmonte, Giuseppe] Univ Hosp, Med Surg & Neurosci Dept, I-53100 Siena, Italy. [Guerranti, Roberto] Univ Hosp, AOUS, Clin Pathol Lab Unit, I-53100 Siena, Italy. [Guerranti, Roberto; Cortelazzo, Alessio] Univ Siena, Dept Med Biotechnol, I-53100 Siena, Italy. [Durand, Thierry] UM1, UM2, CNRS, IBMM,UMR 5247, F-34093 Montpellier 5, France. [Valacchi, Giuseppe] Univ Ferrara, I-44100 Ferrara, Italy. [Valacchi, Giuseppe] Kyung Hee Univ, Dept Food & Nutr, Seoul 130701, South Korea. [Rossi, Marcello] Univ Hosp, AOUS, Resp Pathophysiol & Rehabil Unit, I-53100 Siena, Italy. RP De Felice, C (reprint author), Univ Hosp, AOUS, Neonatal Intens Care Unit, Viale M Bracci 16, I-53100 Siena, Italy. EM geniente@gmail.com FU Tuscany Region (Bando Salute, "Antioxidants (-3 Polyunsaturated Fatty Acids, lipoic acid) supplementation in Rett syndrome: A novel approach to therapy"), Italy FX The present research project has been funded by the Tuscany Region (Bando Salute 2009, "Antioxidants (omega-3 Polyunsaturated Fatty Acids, lipoic acid) supplementation in Rett syndrome: A novel approach to therapy"), Italy. The authors sincerely thank Drs. Pierluigi Tosi, Silvia Briani, and Roberta Croci from the Administrative Direction of the Azienda Ospedaliera Senese for continued support to their studies and the Azienda Ospedaliera Senese for prior purchasing of the gas spectrometry instrumentation. We thank Roberto Faleri (Central Medical Library, University of Siena, Siena, Italy) for online bibliographic assistance. The authors sincerely thank the professional singer Matteo Setti (http://www.matteosetti.com/) for having serendipitously triggered the scientific studies on hypoxia-related oxidative stress in Rett girls and autistic children, as well as his many charity concerts and continued interest and support in the scientific aspects of our research. 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Inflamm. PY 2013 AR 432616 DI 10.1155/2013/432616 PG 11 WC Cell Biology; Immunology SC Cell Biology; Immunology GA 279TX UT WOS:000328983400001 ER PT J AU Jahja, R Huijbregts, SCJ de Sonneville, LMJ van der Meere, JJ Bosch, AM Hollak, CEM Rubio-Gozalbo, ME Brouwers, MCGJ Hofstede, FC de Vries, MC Janssen, MCH van der Ploeg, AT Langendonk, JG van Spronsen, FJ AF Jahja, Rianne Huijbregts, Stephan C. J. de Sonneville, Leo M. J. van der Meere, Jaap J. Bosch, Annet M. Hollak, Carla E. M. Rubio-Gozalbo, M. Estela Brouwers, Martijn C. G. J. Hofstede, Floris C. de Vries, Maaike C. Janssen, Mirian C. H. van der Ploeg, Ans T. Langendonk, Janneke G. van Spronsen, Francjan J. TI Mental health and social functioning in early treated Phenylketonuria: The PKU-COBESO study SO MOLECULAR GENETICS AND METABOLISM LA English DT Article DE PKU-COBESO; Phenylketonuria; Childhood phenylalanine; Mental health; Social functioning ID ASPERGER-SYNDROME; EXECUTIVE FUNCTION; CHILDREN; AUTISM; ADULTS; ADOLESCENTS; PUNISHMENT; PROFILE; MEMORY; REWARD AB This article presents a new Dutch multicenter study ("PKU-COBESO") into cognitive and behavioral sequelae of early and continuously treated Phenylketonuria (PKU) patients. Part of the study sample will consist of young adult PKU patients who have participated in a large neuropsychological study approximately 10 years ago, when they were 7-to-15-year-olds (Huijbregts et al., 2002 [1]). Their neurocognitive development will be mapped in association with their earlier and continued metabolic history, taking into account possible changes in, for instance, medication. A second part of the sample will consist of PKU patients between the ages of 7 and approximately 40 years (i.e., born in or after 1974, when neonatal screening was introduced in The Netherlands), who have not participated in the earlier neuropsychological study. Again, their cognitive functioning will be related to their metabolic history. With respect to aspects of cognition, there will be an emphasis on executive functioning. The concept of executive functioning will however be extended with further emphasis on the impact of cognitive deficits on the daily lives of PKU patients, aspects of social cognition, social functioning, and behavior/mental health (i.e., COgnition, BEhavior, SOcial functioning: COBESO). In addition to a description of the PKU-COBESO study, some preliminary results with respect to mental health and social functioning will be presented in this article. Thirty adult PKU patients (mean age 27.8, SD 6.4) and 23 PKU patients under the age of 18 years (mean age 11.0, SD 33) were compared to 14 (mean age 26.9 years, SD 5.9) and 7 matched controls (mean age 10.5, SD 2.6) respectively, with respect to their scores on the Adult Self-Report or Child Behavior Checklist (measuring mental health problems) and the Social Skills Checklist or Social Skills Rating System (measuring social skills). Whereas there were very few significant group differences (except for mental health problems in the internalizing spectrum for adult PKU patients), possibly due to the small control groups, several significant associations between mental health problems and Phe levels were observed for the PKU patients. Childhood Phe levels and internalizing problems for adult PKU patients were related; concurrent Phe was associated with both internalizing and externalizing behavioral problems for those under the age of 18. These preliminary results underline the importance of early dietary adherence. (C) 2013 Elsevier Inc. All rights reserved. C1 [Jahja, Rianne; van Spronsen, Francjan J.] Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Groningen, Netherlands. [Huijbregts, Stephan C. J.; de Sonneville, Leo M. J.] Leiden Univ, Leiden Inst Brain & Cognit, Dept Clin Child & Adolescent Studies, Leiden, Netherlands. [van der Meere, Jaap J.] Univ Groningen, Dept Dev & Clin Neuropsychol, Groningen, Netherlands. [Bosch, Annet M.; Hollak, Carla E. M.] Univ Amsterdam, Acad Med Ctr, NL-1105 AZ Amsterdam, Netherlands. [Rubio-Gozalbo, M. Estela; Brouwers, Martijn C. G. J.] Univ Limburg, Acad Hosp Maastricht, Maastricht, Netherlands. [Hofstede, Floris C.] Univ Med Ctr Utrech, Wilhelmina Childrens Hosp, Utrecht, Netherlands. [de Vries, Maaike C.; Janssen, Mirian C. H.] Radboud Univ Nijmegen, Med Ctr, NL-6525 ED Nijmegen, Netherlands. [van der Ploeg, Ans T.; Langendonk, Janneke G.] Erasmus MC, Rotterdam, Netherlands. RP Jahja, R (reprint author), Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Div Metab Dis CA33, POB 30-001, NL-9700 RB Groningen, Netherlands. EM jahjar@umcg.nl RI rubio, estela/H-1833-2011 FU ZorgOnderzoek Nederland [28-2719]; Dutch PKU Research Foundation; NutsOhra Fund; University Medical Center Groningen, the Netherlands FX ZorgOnderzoek Nederland (no. 28-2719), the Dutch PKU Research Foundation, NutsOhra Fund, and the University Medical Center Groningen, the Netherlands. 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PY 2013 VL 110 SU S BP S57 EP S61 DI 10.1016/j.ymgme.2013.10.011 PG 5 WC Biochemistry & Molecular Biology; Genetics & Heredity; Medicine, Research & Experimental SC Biochemistry & Molecular Biology; Genetics & Heredity; Research & Experimental Medicine GA 278GG UT WOS:000328876600009 PM 24183792 ER PT J AU Gerhant, A Olajossy, M Olajossy-Hilkesberger, L AF Gerhant, Aneta Olajossy, Marcin Olajossy-Hilkesberger, Luiza TI Neuroanatomical, genetic and neurochemical aspects of infantile autism SO PSYCHIATRIA POLSKA LA Polish DT Article DE infantile autism; neuroanatomy; neurotramsmiters ID SEROTONIN TRANSPORTER GENE; SPECTRUM DISORDERS; REPETITIVE BEHAVIORS; CHILDREN; BRAIN; METAANALYSIS; OXYTOCIN; LINKAGE; ABNORMALITIES; ADOLESCENTS AB Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism. C1 [Gerhant, Aneta] Wojewodzki Szpital Nerwowo & Psychicznie Chorych, PL-21305 Suchowola, Poland. [Olajossy, Marcin; Olajossy-Hilkesberger, Luiza] Katedra & Klin Psychiat UM, Lublin, Poland. 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Pol. PY 2013 VL 47 IS 6 BP 1101 EP 1111 PG 11 WC Psychiatry SC Psychiatry GA 278QM UT WOS:000328904800012 PM 25007541 ER PT J AU Fu, XY Mei, Z Sun, LX AF Fu, Xiaoyan Mei, Zhu Sun, Lixin TI Association between the g.296596G > A genetic variant of RELN gene and susceptibility to autism in a Chinese Han population SO GENETICS AND MOLECULAR BIOLOGY LA English DT Article DE autism; susceptibility; association analysis; RELN gene; genetic variants ID REELIN GENE; SPECTRUM DISORDER; SEROTONIN TRANSPORTER; COMMERCIAL CATTLE; CANDIDATE GENE; POLYMORPHISMS; ALLELES; LINKAGE; OXTR; REPEAT AB Autism is a childhood neuro-developmental disorder, and Reelin (RELN) is an important candidate gene for influencing autism. This study aimed at investigating the influence of genetic variants of the RELN gene on autism susceptibility. In this study, 205 autism patients and 210 healthy controls were recruited and the genetic variants of the RELN gene were genotyped by the created restriction site-polymerase chain reaction (CRS-PCR) method. The influence of genetic variants on autism susceptibility was analyzed by association analysis, and the g.296596G > A genetic variant in exon10 of the RELN gene was detected. The frequencies of allele/genotype in autistic patients were significantly different from those in healthy controls, and a statistically significant association was detected between this genetic variant and autism susceptibility. Our data lead to the inference that the g.296596G > A genetic variant in the RELN gene has a potential influence on autism susceptibility in the Chinese Han population. C1 [Fu, Xiaoyan; Mei, Zhu; Sun, Lixin] Tongji Univ, Tongji Hosp, Dept Pediat, Shanghai 200065, Peoples R China. RP Fu, XY (reprint author), Tongji Univ, Tongji Hosp, Dept Pediat, 389 Xincun Rd, Shanghai 200065, Peoples R China. 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Mol. Biol. PY 2013 VL 36 IS 4 BP 486 EP 489 PG 4 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA 275UI UT WOS:000328702800003 PM 24385848 ER PT J AU Mbati, L AF Mbati, Lydia TI Online Social Media Applications for Constructivism and Observational Learning SO INTERNATIONAL REVIEW OF RESEARCH IN OPEN AND DISTANCE LEARNING LA English DT Article DE Learning management systems; online social media; constructivism; observational learning ID VIDEO; CHILDREN; AUTISM; MODEL; TEACHERS; SELF AB Web 2.0 technologies have a range of possibilities for fostering constructivist learning and observational learning. This is due to the available applications which allow for synchronous and asynchronous interaction and the sharing of knowledge between users. Web 2.0 tools include online social media applications which have potential pedagogical benefits. Despite these potential benefits, there is inadequate utilization of online social media applications in learning management systems for pedagogical purposes. Reasons cited for the limited uptake of online social media applications in learning management systems include the lack of consideration regarding the pedagogical benefits of these applications (Christie & Garrote-Jurado, 2009, pp. 273-279). There is limited information regarding experiences of the use of online social media that foster constructivist and observational learning. Using a qualitative meta-ethnographic approach, this article explores the experiences of students and instructors regarding online social media applications for constructivism and observational learning. Constructivist criteria (Baviskar, Hartle, & Whitney, 2009, pp. 543-544) and observational learning, based on Bandura's (2001, pp. 265-299) social cognitive theory, formed the theoretical grounding for this research. 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Open Distance Learn. PY 2013 VL 14 IS 5 BP 166 EP 184 PG 19 WC Education & Educational Research SC Education & Educational Research GA 273MO UT WOS:000328539200010 ER PT J AU Vorsanova, SG Iourov, IY Voinova, VY Kurinnaya, OS Zelenova, MA Demidova, IA Ulas, EV Yurov, YB AF Vorsanova, S. G. Iourov, I. Y. Voinova, V. Y. Kurinnaya, O. S. Zelenova, M. A. Demidova, I. A. Ulas, E. V. Yurov, Y. B. TI Subchromosomal microdeletion identified by molecular karyotyping using DNA microarrays (array CGH) in Rett syndrome girls negative for MECP2 gene mutations SO ZHURNAL NEVROLOGII I PSIKHIATRII IMENI S S KORSAKOVA LA Russian DT Article DE Rett syndrome; autism; mental retardation; genome; DNA microarrays; molecular karyotyping; genomic and chromosomal abnormalities ID RUSSIAN COHORT; DELETIONS; DIAGNOSIS; DISEASES; CHILDREN AB Molecular karyotyping using DNA microarrays (array CGH) was applied for identification of subchromosomal microdeletions in a cohort of 12 girls with clinical features of RETT syndrome, but negative for MECP2 gene mutations. Recurrent microdeletions of MECP2 gene in chromosome X (locus Xq28) were identified in 5 girls of 12 studied. Probably RTT girls with subchromosomic microdeletions in Xq28 could represent a special subtype of the disease, which appears as clinically milder than the classic form of disease. In one case, an atypical form of RTT was associated with genomic abnormalities affecting CDKL5 gene and region critical for microdeletion Prader-Willi and Angelman syndromes (15q11.2). In addition, data are presented for the first time that genetic variation in regions 3p13, 3q27.1, and 1q21.1-1q21.2 could associate with RTT-like clinical manifestations. Without application of molecular karyotyping technology and bioinformatic method of assessing the pathogenic significance of genomic rearrangements these RU-like girls negative for MECP2 gene mutations were considered as cases of idiopathic mental retardation associated with autism. It should be noted that absence of intragenic mutations in MECP2 gene is not sufficient criteria to reject the clinical diagnosis of RTT. To avoid errors in the genetic diagnosis of this genetically heterogeneous brain disease molecular cytogenetic studies using high resolution oligonucleotide array CGH (molecular karyotyping) are needed. C1 [Vorsanova, S. 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Psikhiatrii Im S S Korsakova PY 2013 VL 113 IS 10 BP 63 EP 68 PG 6 WC Clinical Neurology; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 268QJ UT WOS:000328185300012 PM 24300809 ER PT J AU Popa-Wagner, A Mitran, S Sivanesan, S Chang, E Buga, AM AF Popa-Wagner, Aurel Mitran, Smaranda Sivanesan, Senthilkumar Chang, Edwin Buga, Ana-Maria TI ROS and Brain Diseases: The Good, the Bad, and the Ugly SO OXIDATIVE MEDICINE AND CELLULAR LONGEVITY LA English DT Review ID DEFICIT HYPERACTIVITY DISORDER; RECEPTOR-GAMMA AGONISTS; FOCAL CEREBRAL-ISCHEMIA; CYTOCHROME-C-OXIDASE; OXIDATIVE STRESS PARAMETERS; AUTISM SPECTRUM DISORDERS; HYPERBARIC-OXYGEN THERAPY; AMYLOID BETA-PEPTIDE; TOLL-LIKE RECEPTOR-4; NF-KAPPA-B AB The brain is a major metabolizer of oxygen and yet has relatively feeble protective antioxidant mechanisms. This paper reviews the Janus-faced properties of reactive oxygen species. It will describe the positive aspects of moderately induced ROS but it will also outline recent research findings concerning the impact of oxidative and nitrooxidative stress on neuronal structure and function in neuropsychiatric diseases, including major depression. A common denominator of all neuropsychiatric diseases including schizophrenia and ADHD is an increased inflammatory response of the brain caused either by an exposure to proinflammatory agents during development or an accumulation of degenerated neurons, oxidized proteins, glycated products, or lipid peroxidation in the adult brain. Therefore, modulation of the prooxidant-antioxidant balance provides a therapeutic option which can be used to improve neuroprotection in response to oxidative stress. We also discuss the neuroprotective role of the nuclear factor erythroid 2-related factor (Nrf2) in the aged brain in response to oxidative stressors and nanoparticle-mediated delivery of ROS-scavenging drugs. The antioxidant therapy is a novel therapeutic strategy. However, the available drugs have pleiotropic actions and are not fully characterized in the clinic. Additional clinical trials are needed to assess the risks and benefits of antioxidant therapies for neuropsychiatric disorders. C1 [Popa-Wagner, Aurel; Buga, Ana-Maria] Univ Rostock, Sch Med, Dept Psychiat, D-18147 Rostock, Germany. [Mitran, Smaranda; Buga, Ana-Maria] Univ Med & Pharm, Ctr Clin & Expt Med, Craiova 200349, Romania. [Sivanesan, Senthilkumar] Iowa State Univ Sci & Technol, Coll Vet Med, Dept Biomed Sci, Ames, IA 50011 USA. [Chang, Edwin] Stanford Univ, Sch Med, MIPS, Canary Ctr Stanford Canc Early Detect, Palo Alto, CA 94304 USA. RP Popa-Wagner, A (reprint author), Univ Rostock, Sch Med, Dept Psychiat, Gehlsheimer Str 20, D-18147 Rostock, Germany. EM aurel.popa-wagner@med.uni-rostock.de RI Popa-Wagner, Aurel/E-2541-2013 FU UEFISCDI; PN-II-PCCA [80]; UEFISCDI FLARE2 FX This study was supported by UEFISCDI, PN-II-PCCA-2011 Grant no. 80, to Aurel Popa-Wagner and UEFISCDI FLARE2 to Ana-Maria Buga. 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Cell. Longev. PY 2013 DI 10.1155/2013/963520 PG 14 WC Cell Biology SC Cell Biology GA 271GC UT WOS:000328378800001 ER PT J AU Bergeron, JDL Deslauriers, J Grignon, S Fortier, LC Lepage, M Sfroh, T Poyart, C Sebire, G AF Bergeron, J. D. L. Deslauriers, J. Grignon, S. Fortier, L. C. Lepage, M. Sfroh, T. Poyart, C. Sebire, G. TI White Matter Injury and Autistic-Like Behavior Predominantly Affecting Male Rat Offspring Exposed to Group B Streptococcal Maternal Inflammation SO DEVELOPMENTAL NEUROSCIENCE LA English DT Article DE Autism; Group B streptococcus; Dysmyelination; Gestational inflammation ID EXTREMELY PRETERM INFANTS; IMMUNE ACTIVATION; SPECTRUM DISORDERS; SCHIZOPHRENIA RESEARCH; PREPULSE INHIBITION; PRENATAL INFECTION; BRAIN-DEVELOPMENT; CEREBRAL-PALSY; MOTOR DEFICITS; ANIMAL-MODEL AB The impact of the group B streptococcus (GBS)-induced maternal inflammation on offspring's brain has not yet been investigated despite GBS being one of the most frequent bacteria colonizing or infecting pregnant women. According to our hypothesis GBS-induced maternal immune activation plays a role in offspring perinatal brain damage and subsequent neurodisabilities such as autism. Using a new preclinical rat model of maternal inflammation triggered by inactivated GBS, we demonstrated placental, neuropathological and behavioral impacts on offspring. GBS-exposed placentas presented cystic lesions and polymorphonuclear infiltration located within the decidual/maternal side of the placenta, contrasting with macrophagic infiltration and necrotic areas located in the labyrinth/fetal compartment of the placenta after lipopolysaccharide-induced maternal inflammation. Brain damage featured lateral ventricles widening, predominately in the male, reduction of periventricular external capsules thickness, oligodendrocyte loss, and disorganization of frontoparietal subcortical tissue with no glial proliferation. Autistic hallmarks were found in offspring exposed to GBS, namely deficits in motor behavior, social and communicative impairments, i.e. profound defects in the integration and response to both acoustic and chemical signals that are predominant modes of communication in rats. Surprisingly, only male offspring were affected by these combined autistic-like traits. Our results show for the first time that materno-fetal inflammatory response to GBS plays a role in the induction of placental and cerebral insults, remarkably recapitulating cardinal features of human autism such as gender dichotomy and neurobehavioral traits. Unlike other models of prenatal inflammatory brain damage (induced by viral/toll-like receptor 3 (TLR3) or Gram-negative/TLR4), maternal inflammation resulting from GBS/TLR2 interactions induced a distinctive pattern of chorioamnionitis and cerebral injuries. These results also provide important evidence that beyond genetic influences, modifiable environmental factors play a role in both the occurrence of autism and its gender imbalance. (C) 2013 S. Karger AG, Basel C1 [Bergeron, J. D. L.; Sebire, G.] Univ Sherbrooke, Dept Pediat, Sherbrooke, PQ J1K 2R1, Canada. [Deslauriers, J.; Grignon, S.] Univ Sherbrooke, Dept Physiol & Biophys, Sherbrooke, PQ J1K 2R1, Canada. [Grignon, S.] Univ Sherbrooke, Dept Psychiat, Sherbrooke, PQ J1K 2R1, Canada. [Fortier, L. C.] Univ Sherbrooke, Dept Microbiol, Sherbrooke, PQ J1K 2R1, Canada. [Lepage, M.] Univ Sherbrooke, Dept Med Nucl & Radiobiol, Sherbrooke, PQ J1K 2R1, Canada. [Sfroh, T.] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada. [Sfroh, T.] McGill Univ, Dept Anat & Cell Biol, Montreal, PQ, Canada. McGill Univ, Montreal Neurol Inst, Montreal, PQ, Canada. [Poyart, C.] Univ Sorbonne Paris Descartes, Inst Cochin, Paris, France. [Poyart, C.] INSERM, U1016, Paris, France. [Poyart, C.] Hop Univ Paris Ctr Cochin Hotel Dieu Broca, AP HP, Serv Bacteriol, Ctr Natl Reference Streptocoques, Paris, France. RP Sebire, G (reprint author), 3001 12eme Ave Nord, Sherbrooke, PQ J1H 5N4, Canada. EM Guillaume.Sebire@USherbrooke.ca RI Lepage, Martin/F-5743-2014 FU Fonds de la Recherche du Quebec-Sante (FRQ-S); Canadian Institutes of Health Research (CIHR); Foundation of Stars; Centre de Recherche Clinique Etienne Le Bel du CHUS FX This work was supported by a scholarship from Fonds de la Recherche du Quebec-Sante (FRQ-S), a grant from the Canadian Institutes of Health Research (CIHR), and a grant from the Foundation of Stars to G.S. G.S., M.L., L.C.F. and S.G. are members of the FRSQ-funded Centre de Recherche Clinique Etienne Le Bel du CHUS. G.S. and S.G. are members of the Centre de Neurosciences de l'Universite de Sherbrooke. G.S. is a member of the Centre de Recherche Mere & Enfant de l'Universite de Sherbrooke. 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PY 2013 VL 14 IS 9 AR 213 DI 10.1186/gb-2013-14-9-213 PG 15 WC Biotechnology & Applied Microbiology; Genetics & Heredity SC Biotechnology & Applied Microbiology; Genetics & Heredity GA 268UI UT WOS:000328195700017 PM 24083347 ER PT J AU Ro, M Won, S Kang, H Kim, SY Lee, SK Nam, M Bang, HJ Yang, JW Choi, KS Kim, SK Chung, JH Kwack, K AF Ro, MyungJa Won, SeongSik Kang, HyunJun Kim, Su-Yeon Lee, Seung Ku Nam, Min Bang, Hee Jung Yang, Jae Won Choi, Kyung-Sik Kim, Su Kang Chung, Joo-Ho Kwack, KyuBum TI Association of the FGA and SLC6A4 Genes with Autistic Spectrum Disorder in a Korean Population SO NEUROPSYCHOBIOLOGY LA English DT Article DE Autism spectrum disorder; Polymorphism; Childhood Autism Rating Scale; SLC6A4; FGA ID SEROTONIN TRANSPORTER GENE; MYOCARDIAL-INFARCTION; BRAIN-DEVELOPMENT; POLYMORPHISMS; HAPLOTYPES; FIBRINOGEN; LINKAGE; MICE; HYPERSEROTONEMIA; VARIANTS AB Background: Autism spectrum disorder (ASD) is a neurobiological disorder characterized by distinctive impairments in cognitive function, language, and behavior. Linkage and population studies suggest a genetic association between solute carrier family 6 member 4 (SLC6A4) variants and ASD. Method: Logistic regression was used to identify associations between single-nucleotide polymorphisms (SNPs) and ASD with 3 alternative models (additive, dominant, and recessive). Linear regression analysis was performed to determine the influence of SNPs on Childhood Autism Rating Scale (CARS) scores as a quantitative phenotype. Results: In the present study, we examined the associations of SNPs in the SLC6A4 gene and the fibrinogen alpha chain (FGA) gene. Logistic regression analysis showed a significant association between the risk of ASD and rs2070025 and rs2070011 in the FGA gene. The gene-gene interaction between SLC6A4 and FGA was not significantly associated with ASD susceptibility. However, polymorphisms in both SLC6A4 and the FGA gene significantly affected the symptoms of ASD. Conclusion: Our findings indicate that FGA and SLC6A4 gene interactions may contribute to the phenotypes of ASD rather than the incidence of ASD. (C) 2013 S. Karger AG, Basel C1 [Ro, MyungJa; Won, SeongSik; Kang, HyunJun; Kim, Su-Yeon; Lee, Seung Ku; Kwack, KyuBum] CHA Univ, Coll Life Sci, Dept Biomed Sci, Songnam, South Korea. [Nam, Min] Ewha Womans Univ, Seoul Metropolitan Childrens Hosp, Dept Psychiat, Seoul, South Korea. [Bang, Hee Jung] Ewha Womans Univ, Coll Social Sci, Dept Psychol, Seoul, South Korea. [Kim, Su Kang; Chung, Joo-Ho] Kyung Hee Univ, Sch Med, Kohwang Med Res Inst, Seoul, South Korea. [Yang, Jae Won] Korea Univ, Ansan Hosp, Coll Med, Dept Psychiat, Ansan, South Korea. [Choi, Kyung-Sik] Joongbu Univ, Dept Elementary Special Educ, Coll Social Sci, Chungnam, South Korea. RP Kwack, K (reprint author), CHA Univ, Coll Life Sci, Dept Biomed Sci, 222 Yatapdong, Songnam 463836, Gyeonggido, South Korea. EM kbkwack@cha.ac.kr FU Korea Health 21 R&D Project, Ministry of Health and Welfare, Republic of Korea [A040002] FX This study was supported by a grant from the Korea Health 21 R&D Project, Ministry of Health and Welfare, Republic of Korea (A040002). 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The aim of the present study was to evaluate the relationship between olfactory functions (odor-detection thresholds, odor identification, and odor preference) and autism severity and sensory-related behavior in children and adolescents with ASD. Subjects and methods: Our sample consisted of 35 high-functioning patients with ASD (mean age 10.8 +/- 3.6 years, 31 boys). Olfactory testing (threshold and identification) used the Sniffin' Sticks test. Odor pleasantness was assessed on a 5-point scale using the Identification part of the Sniffin' Sticks test. The severity of autistic psychopathology was measured using the Childhood Autism Rating Scale (CARS). Results: Using Spearman's correlation, we found no significant correlations between autism severity (as expressed by total CARS score) and odor-detection thresholds (R=0.144, P=0.409), odor identification (R=0.07, P=0.966), or odor pleasantness (R=-0.046, P=0.794). There was also no significant relationship between CARS item 9 ("Taste, smell, and touch response and use") and odor-detection thresholds (R=0.170, P=0.330), odor identification (R=0.282, P=0.100), or odor pleasantness (R=0.017, P=0.923). Conclusion: We did not find any significant relationship between the severity of autistic psychopathology and olfactory functions. C1 [Dudova, Iva; Hrdlicka, Michal] Univ Hosp Motol, Dept Child Psychiat, Prague, Czech Republic. RP Dudova, I (reprint author), Charles Univ Prague, Dept Child Psychiat, Fac Med 2, Univ Hosp Motol, 84 5 Uvalu, Prague 15006, Czech Republic. EM iva.dudova@lfmotol.cuni.cz FU Ministry of Education, Youth and Sports, Czech Republic [COST LD11028]; Ministry of Health, Czech Republic (conceptual development of research organization, University Hospital Motol, Prague, Czech Republic) [00064203] FX This study was supported by the Ministry of Education, Youth and Sports, Czech Republic (research grant COST LD11028) and by the Ministry of Health, Czech Republic (conceptual development of research organization, University Hospital Motol, Prague, Czech Republic 00064203). The authors would like to thank Thomas Secrest, MSc for his assistance with the English version of the manuscript. 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PY 2013 VL 26 IS 3 BP 451 EP 458 PG 8 WC Psychology, Multidisciplinary SC Psychology GA 262CE UT WOS:000327710900004 ER PT J AU Arthanat, S Curtin, C Knotak, D AF Arthanat, Sajay Curtin, Christine Knotak, David TI Comparative Observations of Learning Engagement by Students With Developmental Disabilities Using an iPad and Computer: A Pilot Study SO ASSISTIVE TECHNOLOGY LA English DT Article DE assistive technology; developmental disability; education; iPad; single subject design AB This study examined the use of the Apple iPad for learning by children with developmental disabilities (DD), including those on the autism spectrum. A single case design was used to record the participation of four students with DD when taught with their standard computer at baseline, followed by the introduction of the iPad. A six-component participation scale was developed to quantify observations of these students during the learning sessions. Visual analysis of data indicated no differences in participation with the iPad as compared to the computer for three of the four subjects. One subject appeared to have notably higher participation with the iPad. Individual variations were identified in each student along with some common concerns with attention, task persistence, and goal directed behavior with use of the iPad. Student academic scores improved during the course of iPad use. Nevertheless, the findings drawn from this pilot study do not justify the use of the iPad over the computer (and vice versa) for achieving academic goals in students with DD. The need to document best practices and barriers in use of emerging touch-tablet devices to support individualized education was clearly evident. C1 [Arthanat, Sajay; Curtin, Christine] Univ New Hampshire, Coll Hlth & Human Serv, Durham, NH 03824 USA. [Knotak, David] Crotched Mt Rehabil Ctr, Greenfield, NH USA. 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PY 2013 VL 25 IS 4 BP 204 EP 213 DI 10.1080/10400435.2012.761293 PG 10 WC Rehabilitation SC Rehabilitation GA 257OM UT WOS:000327394300003 PM 24620703 ER PT J AU Dudova, I Hrdlicka, M AF Dudova, Iva Hrdlicka, Michal TI Use of ADI-R and ADOS in diagnostics of autism SO CESKOSLOVENSKA PSYCHOLOGIE LA Czech DT Article DE autism spectrum disorders; diagnosis; ADI-R; ADOS ID SPECTRUM DISORDERS; OBSERVATION SCHEDULE; CHILDHOOD AUTISM; RATING-SCALE; COMBINING INFORMATION; MULTIPLE SOURCES; INTERVIEW; CHILDREN; CLASSIFICATION AB The authors discuss two "gold standard" methods for the diagnosis of autism spectrum disorders: ADI-R (Autism Diagnostic Interview-Revised) and ADOS (Autism Diagnostic Observation Schedule), and review comparative studies that evaluate the methods. Some of the studies found the instruments to be diagnostically equivalent, other studies slightly favored ADOS. Sensitivity of both methods was high even when used alone. However, the combined use of ADI-R and ADOS led to higher diagnostic specificity. The authors also present two cases describing the parallel clinical use of ADI-R and ADOS as part of the diagnosis of two boys aged 8.8 and 4.2 years, respectively. Both cases effectively demonstrate the following theoretical assumption: whereas the reliability of both methods is comparable under optimal conditions, the use of ADI-R is significantly limited in cases when the cooperation of the parent(s) or caregiver is unreliable, limited, or impossible. In such cases, examination using ADOS is preferred. C1 [Dudova, Iva; Hrdlicka, Michal] LF UK, Detska Psychiat Klin 2, FN Motol, Prague, Czech Republic. RP Dudova, I (reprint author), Detska Psychiat Klin, V Uvalu 84, Prague 15006 5, Motol, Czech Republic. 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Psychol. PY 2013 VL 57 IS 5 BP 488 EP 495 PG 8 WC Psychology, Multidisciplinary SC Psychology GA 252IW UT WOS:000326999400007 ER PT J AU Leeds, CA Jensvold, ML AF Leeds, Charles Austin Jensvold, Mary Lee TI The communicative functions of five signing chimpanzees (Pan troglodytes) SO PRAGMATICS & COGNITION LA English DT Article DE American Sign Language; Chimpanzee; communicative function; cross-fostered ID CROSS-FOSTERED CHIMPANZEES; YOUNG-CHILDREN; INTENTIONS; LANGUAGE; AGE; UTTERANCES; PHYLOGENY; PROFILES; SPEECH; AUTISM AB Speech act theory describes units of language as acts which function to change the behavior or beliefs of the partner. Therefore, with every utterance an individual seeks a communicative goal that is the underlying motive for the utterance's production; this is the utterance's function. Studies of deaf and hearing human children classify utterances into categories of communicative function. 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PY 2013 VL 21 IS 1 BP 224 EP 247 DI 10.1075/pc.21.1.10lee PG 24 WC Linguistics; Language & Linguistics SC Linguistics GA 255YC UT WOS:000327275000010 ER PT J AU Steinhausen, HC AF Steinhausen, Hans-Christoph TI What happens to children and adolescents with mental disorders? Findings from long-term outcome research SO ZEITSCHRIFT FUR KINDER-UND JUGENDPSYCHIATRIE UND PSYCHOTHERAPIE LA German DT Review DE mental disorders; childhood; adolescence; course; prognosis ID DEFICIT-HYPERACTIVITY DISORDER; FOLLOW-UP; CONDUCT DISORDER; PSYCHIATRIC-PATIENTS; SPECTRUM DISORDERS; YOUNG ADULTHOOD; ELECTIVE MUTISM; EUROPE 2010; METAANALYSIS; CHILDHOOD AB What happens to children and adolescents with mental disorders? Findings from long-term outcome research Research on the long-term outcome of mental disorders originating in childhood and adolescence is an important part of developmental psychopathology. After a brief sketch of relevant terms of outcome research, the first part of this review reports findings based on heterotypic cohort studies. The major second part of this review presents findings based on long-term outcome studies dealing with homotypic diagnostic groups. In particular, the review focuses on the course and prognosis of ADHD, anxiety disorders, depression, conduct disorders, eating disorders, autism spectrum disorders, schizophrenia, and selective mutism. Findings mainly support the vulnerability hypothesis regarding mental disorders with early manifestation in childhood and adolescence as frequent precursors of mental disorders in adulthood. The discussion focuses on the impact of early manifesting disorders in the frame of general mental morbidity and of the effect of interventions, which is not yet sufficiently discernible. C1 Univ Krankenhaus Aalborg, Psychiat Krankenhaus Aalborg, Forschungseinheit Kinder & Jugendpsychiat, DK-9000 Aalborg, Denmark. 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PY 2013 VL 41 IS 6 BP 419 EP 431 DI 10.1024/1422-4917/a000258 PG 13 WC Psychiatry SC Psychiatry GA 254RF UT WOS:000327183600007 PM 24240498 ER PT J AU Taylor, B Jick, H MacLaughlin, D AF Taylor, Brent Jick, Hershel MacLaughlin, Dean TI Prevalence and incidence rates of autism in the UK: time trend from 2004-2010 in children aged 8 years SO BMJ OPEN LA English DT Article ID PRACTICE RESEARCH DATABASE; UNITED-KINGDOM; RUBELLA VACCINATION; BREAST-CANCER; MUMPS; MEASLES; EPIDEMIOLOGY; POPULATION; DISORDERS; DIAGNOSIS AB Objectives To update UK studies begun in the early 1990s on the annual prevalence and incidence rates of autism in children; undertaken in response to a March 2012 press release, widely covered by the media, from the US Centre for Disease Control (CDC) reporting that the autism prevalence rate in 2008 in 8-year-old US children was 1 in 88, a 78% increase from a CDC estimate in 2004. This finding suggested a continuation of the dramatic increase in children diagnosed as autistic, which occurred in the 1990s. Design Population study using the UK General Practice Research Database (GPRD). Methods Annual autism prevalence rates were estimated for children aged 8years in 2004-2010 by dividing the number diagnosed as autistic in each or any previous year by the number of children active in the study population that year. We also calculated annual incidence rates for children aged 2-8years, by dividing the number newly diagnosed in 2004-2010 by the same denominators. Results Annual prevalence rates for each year were steady at approximately 3.8/1000 boys and 0.8/1000 girls. Annual incidence rates each year were also steady at about 1.2/1000 boys and 0.2/1000 girls. Conclusions Following a fivefold increase in the annual incidence rates of autism during the 1990s in the UK, the incidence and prevalence rates in 8-year-old children reached a plateau in the early 2000s and remained steady through 2010. Whether prevalence rates have increased from the early 2000s in the USA remains uncertain. C1 [Taylor, Brent] UCL Inst Child Hlth, Gen & Adolescent Paediat Unit, London, England. [Jick, Hershel; MacLaughlin, Dean] Boston Univ, Sch Med, Boston Collaborat Drug Surveillance Program, Lexington, MA 02215 USA. RP Jick, H (reprint author), Boston Univ, Sch Med, Boston Collaborat Drug Surveillance Program, Lexington, MA 02215 USA. 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A. Lu, Hongjing TI A biological motion toolbox for reading, displaying, and manipulating motion capture data in research settings SO JOURNAL OF VISION LA English DT Article DE biological motion; motion capture; toolbox ID AUTISTIC SPECTRUM DISORDERS; POINT-LIGHT DISPLAYS; STIMULUS SET; PERCEPTION; RECOGNITION; CHILDREN; RESPONSES; LANGUAGE; EMOTION; INFANTS AB Biological motion research is an increasingly active field, with a great potential to contribute to a wide range of applications, such as behavioral monitoring/motion detection in surveillance situations, intention inference in social interactions, and diagnostic tools in autism research. In recent years, a large amount of motion capture data has become freely available online, potentially providing rich stimulus sets for biological motion research. However, there currently does not exist an easy-to-use tool to extract, present and manipulate motion capture data in the MATLAB environment, which many researchers use to program their experiments. We have developed the Biomotion Toolbox, which allows researchers to import motion capture data in a variety of formats, to display actions using Psychtoolbox 3, and to manipulate action displays in specific ways (e. g., inversion, three-dimensional rotation, spatial scrambling, phase-scrambling, and limited lifetime). The toolbox was designed to allow researchers with a minimal level of MATLAB programming skills to code experiments using biological motion stimuli. C1 [van Boxtel, Jeroen J. A.; Lu, Hongjing] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90024 USA. [van Boxtel, Jeroen J. A.] Monash Univ, Fac Med Nursing & Hlth Sci, Clayton, Vic 3800, Australia. [Lu, Hongjing] Univ Calif Los Angeles, Dept Stat, Los Angeles, CA USA. RP van Boxtel, JJA (reprint author), Monash Univ, Sch Psychol & Psychiat, Clayton, Vic 3800, Australia. EM j.j.a.vanboxtel@gmail.com RI van Boxtel, Jeroen/O-7624-2014 OI van Boxtel, Jeroen/0000-0003-2643-0474 FU National Science Foundation [NSF BCS-0843880]; NSF [EIA-0196217] FX This project was supported by a grant from the National Science Foundation (NSF BCS-0843880). The motion-capture data used in the sample code was obtained from http://mocap.cs.cmu.edu, which was created with funding from NSF EIA-0196217. 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PY 2013 VL 9 BP 1815 EP 1819 DI 10.2147/NDT.549289 PG 5 WC Clinical Neurology; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 254SW UT WOS:000327188300001 PM 24294002 ER PT J AU Frei, A AF Frei, Andreas TI Attempted homicide as a consequence of misunderstood familial solidarity in a case of "Asperger-Syndrome" A case report SO RECHT & PSYCHIATRIE LA German DT Article DE Autistic spectrum disorder; pervasive developmental disorder; Asperger syndrome; Theory of Mind; homicide ID MIND; DISORDERS; PSYCHOPATHY; AUTISM; CHILD AB Mr. M was a young man of 18 years who had achieved little in his private as well as his professional life. He was assessed by a forensic psychiatrist after he had tried to kill a younger girl from the neighbourhood whom he suspected to intrude in and hence disturb his intact family-life. He was diagnosed to suffer from mixed personality disorder with schizoid and avoidant traits, and in-patient treatment in a forensic psychiatric hospital instead of prison was recommended. On the occasion of a new assessment concerning medico-legal prognosis the diagnosis was changed to pervasive developmental disorder, Asperger syndrome. Violent offences perpetrated by patients suffering from pervasive developmental or autistic spectrum disorder are often characterized by a wish for social contact associated with social naivete which may cause frustration and aggression. This lack of social skills is referred to as a Theory of Mind deficit. C1 Luzerner Psychiat, Forens Dienst, CH-6005 Luzern, Switzerland. RP Frei, A (reprint author), Luzerner Psychiat, Forens Dienst, Voltastr 42, CH-6005 Luzern, Switzerland. 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PY 2013 VL 31 IS 4 BP 202 EP 207 PG 6 WC Criminology & Penology; Psychiatry SC Criminology & Penology; Psychiatry GA 253AK UT WOS:000327053800004 ER PT J AU Wang, M Reid, D AF Wang, Michelle Reid, Denise TI Using the Virtual Reality-Cognitive Rehabilitation Approach to Improve Contextual Processing in Children with Autism SO SCIENTIFIC WORLD JOURNAL LA English DT Article ID SINGLE-SUBJECT RESEARCH; HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; ASPERGER-SYNDROME; CENTRAL COHERENCE; FLEXIBILITY; ADOLESCENTS; ENVIRONMENTS; OBJECTS; ADULTS AB Background. This pilot study investigated the efficacy of a novel virtual reality-cognitive rehabilitation (VR-CR) intervention to improve contextual processing of objects in children with autism. Previous research supports that children with autism show deficits in contextual processing, as well as deficits in its elementary components: abstraction and cognitive flexibility. Methods. Four children with autism participated in a multiple-baseline, single-subject study. The children were taught how to see objects in context by reinforcing attention to pivotal contextual information. Results. All children demonstrated statistically significant improvements in contextual processing and cognitive flexibility. Mixed results were found on the control test and changes in context-related behaviours. Conclusions. Larger-scale studies are warranted to determine the effectiveness and usability in comprehensive educational programs. C1 [Wang, Michelle] Queens Univ, Off Undergrad Med Educ, Kingston, ON K7L 3N6, Canada. [Reid, Denise] Univ Toronto, Virtual Real & Neurorehabil Lab, Toronto, ON M5G 1V7, Canada. RP Wang, M (reprint author), Queens Univ, Off Undergrad Med Educ, 80 Barrie St, Kingston, ON K7L 3N6, Canada. EM mwang@qmed.ca FU Canadian Institutes in Health Research; William Courtney Clayton Paediatric Research Award; Ontario Council of Graduate Studies Autism Scholar's Award FX This study has been supported by the following Grants awarded to the first author: Canadian Institutes in Health Research 2008-09 Master's Award, Hilda and William Courtney Clayton Paediatric Research Award 2008-09, and Ontario Council of Graduate Studies Autism Scholar's Award 2009-10. This paper was prepared from a Masters thesis by the first author. The authors give thanks to Bloorview Kids Rehab, Autism Ontario and the Geneva Centre for help with recruitment. Special thanks to Fan (Mimi) Zhang for technical support, and Luigi Girolametto and Tom Chau for their mentorship and valuable feedback throughout the project. 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Rev. Genomics Hum. Genet. PY 2013 VL 14 BP 191 EP 213 DI 10.1146/annurev-genom-091212-153431 PG 23 WC Genetics & Heredity SC Genetics & Heredity GA BHU05 UT WOS:000326658500009 PM 23875794 ER PT J AU Yi, L Fan, YB Quinn, PC Feng, C Huang, D Li, J Mao, GQ Lee, K AF Yi, Li Fan, Yuebo Quinn, Paul C. Feng, Cong Huang, Dan Li, Jiao Mao, Guoquan Lee, Kang TI Abnormality in face scanning by children with autism spectrum disorder is limited to the eye region: Evidence from multi-method analyses of eye tracking data SO JOURNAL OF VISION LA English DT Article DE autism spectrum disorder; face processing; face recognition; eye movements; eye tracking ID DIAGNOSTIC INTERVIEW; FACIAL EXPRESSIONS; NEURAL CIRCUITRY; YOUNG-CHILDREN; RECOGNITION; INDIVIDUALS; FIXATION; LOOKING; IMPAIRMENT; MOVEMENTS AB There has been considerable controversy regarding whether children with autism spectrum disorder (ASD) and typically developing children (TD) show different eye movement patterns when processing faces. We investigated ASD and age-and IQ-matched TD children's scanning of faces using a novel multi-method approach. We found that ASD children spent less time looking at the whole face generally. After controlling for this difference, ASD children's fixations of the other face parts, except for the eye region, and their scanning paths between face parts were comparable either to the age-matched or IQ-matched TD groups. In contrast, in the eye region, ASD children's scanning differed significantly from that of both TD groups: (a) ASD children fixated significantly less on the right eye (from the observer's view); (b) ASD children's fixations were more biased towards the left eye region; and (c) ASD children fixated below the left eye, whereas TD children fixated on the pupil region of the eye. Thus, ASD children do not have a general abnormality in face scanning. Rather, their abnormality is limited to the eye region, likely due to their strong tendency to avoid eye contact. C1 [Yi, Li; Li, Jiao; Mao, Guoquan] Sun Yat Sen Univ, Dept Psychol, Guangzhou 510275, Guangdong, Peoples R China. [Fan, Yuebo] Guangzhou Cana Sch, Guangzhou, Guangdong, Peoples R China. [Fan, Yuebo; Huang, Dan] Guangzhou Rehabil & Res Ctr Children ASD, Guangzhou, Guangdong, Peoples R China. [Quinn, Paul C.] Univ Delaware, Dept Psychol, Newark, DE USA. [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. [Lee, Kang] Univ Toronto, Dr Eric Jackman Inst Child Study, Toronto, ON, Canada. RP Lee, K (reprint author), Univ Toronto, Dr Eric Jackman Inst Child Study, Toronto, ON, Canada. 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]; Foundation for Distinguished Young Talents in Higher Education of Guangdong, China [WYM10117]; National Natural Science Foundation of China [31200779]; Fundamental Research Funds for the Central Universities [13wkpy40]; Scientific Research Foundation for the Returned Overseas Chinese Scholar of the Ministry of Education of China; National Institutes of Health [R01HD046526, R01HD060595]; Natural Sciences and Engineering Research Council of Canada (NSERC) FX This work was supported by grants from the Humanity and Social Science Youth Foundation of the Ministry of Education of China (12YJC190034), the Foundation for Distinguished Young Talents in Higher Education of Guangdong, China (WYM10117), the National Natural Science Foundation of China (31200779), the Fundamental Research Funds for the Central Universities (13wkpy40), the Scientific Research Foundation for the Returned Overseas Chinese Scholar of the Ministry of Education of China, and grants from National Institutes of Health (R01HD046526 and R01HD060595) and Natural Sciences and Engineering Research Council of Canada (NSERC). The authors are grateful to Shanghai Psytech Electronic Technology Co. Ltd., Chigangyuan Kindergarten, Yongxing Primary School, Xiaofeng Jie, Xianmai Wang, Tanzhi Hou, Jiao Li, Yunyi Li, Hui Wang, and Naiqi Xiao, for their generous assistance in completing the studies. 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Rev. Anthropol. PY 2013 VL 42 BP 53 EP 68 DI 10.1146/annurev-anthro-092412-155502 PG 16 WC Anthropology SC Anthropology GA BHU69 UT WOS:000326694800005 ER PT J AU Kousoulidou, L Moutafi, M Nicolaides, P Hadjiloizou, S Christofi, C Paradesiotou, A Anastasiadou, V Sismani, C Patsalis, PC AF Kousoulidou, Ludmila Moutafi, Maria Nicolaides, Paola Hadjiloizou, Stavros Christofi, Christos Paradesiotou, Anna Anastasiadou, Violetta Sismani, Carolina Patsalis, Philippos C. TI Screening of 50 Cypriot Patients with Autism Spectrum Disorders or Autistic Features Using 400K Custom Array-CGH SO BIOMED RESEARCH INTERNATIONAL LA English DT Article AB Autism spectrum disorders (ASDs) comprise a distinct entity of neurodevelopmental disorders with a strong genetic component. Despite the identification of several candidate genes and causative genomic copy number variations (CNVs), the majority of ASD cases still remain unresolved. We have applied microarray-based comparative genomic hybridization (array-CGH) using Agilent 400K custom array in the first Cyprus population screening for identification of ASD-associated CNVs. A cohort of 50 ASD patients (G1), their parents (G2), 50 ethnically matched normal controls (G3), and 80 normal individuals having children with various developmental and neurological conditions (G4) were tested. As a result, 14 patients were found to carry 20 potentially causative aberrations, two of which were de novo. Comparison of the four population groups revealed an increased rate of rare disease-associated variants in normal parents of children with autism. The above data provided additional evidence, supporting the complexity of ASD aetiology in comparison to other developmental disorders involving cognitive impairment. Furthermore, we have demonstrated the rationale of a more targeted approach combining accurate clinical description with high-resolution population-oriented genomic screening for defining the role of CNVs in autism and identifying meaningful associations on the molecular level. C1 [Kousoulidou, Ludmila; Moutafi, Maria; Anastasiadou, Violetta; Sismani, Carolina; Patsalis, Philippos C.] Cyprus Inst Neurol & Genet, CY-1683 Nicosia, Cyprus. [Nicolaides, Paola; Hadjiloizou, Stavros; Christofi, Christos] Cyprus Paediat Neurol Inst, CY-2047 Nicosia, Cyprus. [Paradesiotou, Anna; Anastasiadou, Violetta] Archbishop Makareios III Hosp, CY-2012 Nicosia, Cyprus. RP Patsalis, PC (reprint author), Cyprus Inst Neurol & Genet, POB 23462, CY-1683 Nicosia, Cyprus. EM patsalis@cing.ac.cy FU Telethon Fund; European Regional Development Fund; Republic of Cyprus through the Research Promotion Foundation; [gammaGammaEIA/0506/29]; [gammaGammaEIA/DeltagammaGammaEIA/0308(BIE)/18]; [PiPOSigmaBASigmaH/EPgammaETheta/ 0308/04] FX The authors are grateful to all patients and volunteers for participating in the study and to the Cyprus Autism Association and the Cyprus Ministry of Education for assistance in patient recruitment. This work was funded by Telethon Fund 2009 and by Grant gamma Gamma EIA/0506/29, gamma Gamma EIA/Delta gamma Gamma EIA/0308(BIE)/18, and Pi PO Sigma BA Sigma H/EP gamma E Theta/ 0308/04, which are cofinanced by the European Regional Development Fund and the Republic of Cyprus through the Research Promotion Foundation. 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Findings regarding the plasma levels of taurine and lysine are controversial. The urinary levels of homocysteine and essential amino acids in both the untreated and treated autistic children are significantly less than those in the controls. The current literature suffers from many methodological shortcomings which needed to be considered in future studies. Some of them are age, gender, developmental level, autism symptoms severity, type of autism spectrum disorders, medical comorbidities, intelligent quotient, diet, concomitant medications, body mass index, and technical method of assessment of amino acids. C1 [Ghanizadeh, Ahmad] Shiraz Univ Med Sci, Res Ctr Psychiat & Behav Sci, Shiraz, Iran. [Ghanizadeh, Ahmad] Shiraz Univ Med Sci, Sch Med, Dept Psychiat, Shiraz, Iran. RP Ghanizadeh, A (reprint author), Shiraz Univ Med Sci, Res Ctr Psychiat & Behav Sci, Shiraz, Iran. 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Markers PY 2013 DI 10.1155/2013/536521 PG 6 WC Biotechnology & Applied Microbiology; Genetics & Heredity; Medicine, Research & Experimental; Pathology SC Biotechnology & Applied Microbiology; Genetics & Heredity; Research & Experimental Medicine; Pathology GA 238WW UT WOS:000325983500001 PM 24167375 ER PT J AU Bilgic, A Congologlu, A Herguner, S Turkoglu, S Bahali, K Gurkan, K Durukan, I Turkbay, T AF Bilgic, Ayhan Congologlu, Ayhan Herguner, Sabri Turkoglu, Serhat Bahali, Kayhan Gurkan, Kagan Durukan, Ibrahim Turkbay, Tumer TI Use of Complementary and Alternative Medicine in Children with Autism Spectrum Disorders: A Multicenter Study SO NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY LA English DT Article DE Autism spectrum disorder; autism; complementary and alternative medicine; treatment ID PERVASIVE DEVELOPMENTAL DISORDERS; THERAPIES; FAMILIES; PARENTS AB Introduction: This study examined the prevalence of the use of different complementary and alternative medicine (CAM) strategies, families' attitudes and belief systems about the use of these strategies, and the economic burden of these strategies placed on family income in families of children with autism spectrum disorders (ASD). Method: A questionnaire survey concerning the use of CAM in children with ASD was administered to parents in the five different geographic locations in Turkey. Results: Of the 172 respondents, 56% had used at least one CAM therapy. The most frequently used CAM intervention was spiritual healing. Among the most reported reasons for seeking CAM were dissatisfaction with conventional interventions and a search for ways to enhance the effectiveness of conventional treatments. The most frequently reported source of recommendation for CAM was advice from family members. The mean economic burden of the CAM methods was a total of 4,005 Turkish lira ($2,670) in the sample using CAM. The CAM usage rate was lower in parents who suspected genetic/congenital factors for the development of ASD. Conclusion: This study observed the importance of socioeconomic and cultural factors as well as parents' beliefs about the etiology of ASD in treatment decisions about CAM. C1 [Bilgic, Ayhan; Herguner, Sabri] Selcuk Univ, Meram Sch Med, Dept Child & Adolescent Psychiat, Konya, Turkey. [Congologlu, Ayhan; Durukan, Ibrahim; Turkbay, Tumer] Gulhane Mil Med Acad, Dept Child & Adolescent Psychiat, Ankara, Turkey. [Turkoglu, Serhat] Ordu Govt Hosp, Dept Child & Adolescent Psychiat, Ordu, Turkey. [Bahali, Kayhan] Bakirkoy Prof Dr Mazhar Osman Mental Hlth & Neuro, Dept Child & Adolescent Psychiat, Istanbul, Turkey. [Gurkan, Kagan] Ankara Univ, Sch Med, Dept Child & Adolescent Psychiat, TR-06100 Ankara, Turkey. RP Bilgic, A (reprint author), Selcuk Univ, Meram Sch Med, Dept Child & Adolescent Psychiat, Konya, Turkey. 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PY 2013 VL 50 IS 3 BP 237 EP 243 DI 10.4274/Npa.y6389 PG 7 WC Clinical Neurology SC Neurosciences & Neurology GA 238SM UT WOS:000325969200008 ER PT J AU Vorsanova, SG Iourov, IY Kurinnaya, OS Voinova, VY Yurov, YB AF Vorsanova, S. G. Iourov, I. Yu Kurinnaya, O. S. Voinova, V. Yu Yurov, Yu B. TI Genomic abnormalities in children with mental retardation and autism: the use of comparative genomic hybridization in situ (HRCGH) and molecular karyotyping with DNA-microchips (array CGH) SO ZHURNAL NEVROLOGII I PSIKHIATRII IMENI S S KORSAKOVA LA Russian DT Article DE autism; mental retardation; genetic diagnostics; genome; DNA microarray; molecular karyotyping; comparative genomic hybridization; genomic and chromosome abnormalities ID BRAIN AB Genomic abnormalities occur with high frequency in children with mental retardation and autistic spectrum disorders (ADS). Molecular karyotyping using DNA microarrays is a new technology for diagnosis of genomic and chromosomal abnormalities in autism implemented in the fields of biological psychiatry and medical genetics. We carried out a comparative analysis of the frequency and spectrum of genome abnormalities in children with mental retardation and autism of unknown etiology using high-resolution comparative genomic methods for hybridization (HRCGH) and molecular karyotyping (array CGH). In a study of 100 children with autism, learning difficulties and congenital malformations by HRCGH, we identified genomic rearrangements in 46% of cases. Using array CGH we examined 50 children with autism. In 44 cases out of 50 (88%), different genomic abnormalities and genomic variations (CNV - copy number variations) were identified. Unbalanced genomic rearrangements, including deletions and duplications, were found in 23 cases out of 44 (52%). These data suggest that genomic abnormalities which are not detectable by common methods of chromosome analysis are often discovered by molecular cytogenetic techniques in children autism spectrum disorders. In addition, 54 children with idiopathic mental retardation and congenital malformations (31 boys and 23 girls) without autism spectrum disorders were examined using molecular karyotyping and microarray containing an increased number of DNA samples for genomic loci of chromosome X. Deletions and duplications affecting different regions of the chromosome X were detected in 11 out of 54 children (20.4%). C1 [Vorsanova, S. G.] Russian Acad Med Sci, Mental Hlth Res Ctr, Moscow 109801, Russia. Moscow Res Inst Pediatris & Childrens Surg, Moscow, Russia. Moscow City Psychol & Pedag Univ, Moscow, Russia. RP Vorsanova, SG (reprint author), Russian Acad Med Sci, Mental Hlth Res Ctr, Moscow 109801, Russia. 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Psikhiatrii Im S S Korsakova PY 2013 VL 113 IS 8 BP 46 EP 49 PG 6 WC Clinical Neurology; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 242RQ UT WOS:000326260100008 PM 24077551 ER PT J AU Paseual, R Bustamante, C AF Paseual, Rodrigo Bustamante, Carlos TI Early postweaning social isolation but not environmental enrichment modifies vermal Purkinje cell dendritic outgrowth in rats SO ACTA NEUROBIOLOGIAE EXPERIMENTALIS LA English DT Article DE Purkinje cell dendrites; environmental enrichment; social isolation; anxiety-like behaviors ID ELEVATED PLUS-MAZE; CEREBELLAR CORTEX; PLASTICITY; EXERCISE; AUTISM; SYNAPTOGENESIS; ANGIOGENESIS; HYPERTROPHY; HIPPOCAMPUS; DISORDERS AB In the present study, we analyzed the effects of enriched, social and isolated experiences on vermal Purkinje cell of the rat, together with anxiety-like behavior in the elevated-plus maze. Sprague-Dawley male rats were randomly submitted to either enriched, social, or isolated environments during the early postweaning period (postnatal days 22-32) and were then behaviorally evaluated in the elevated-plus maze and euthanized for histological analysis. Vermal Purkinje cells (sub-lobules VIa and VIb) were sampled, drawn under camera lucida and morphometrically assessed using the Sholl's concentric ring method. Data obtained indicate that environmental enrichment did not significantly modify the Purkinje cell dendritic branching. On the contrary, Purkinje cell of animals reared in social isolation exhibited a significant reduction in dendritic arborization, which was closely associated with anxiety-like behaviors. The data obtained indicate that, although environmental stimulation in normal animals does not produce significant changes in vermal Purkinje cell dendritic arborization, these cells are vulnerable to early stressful experiences, which is in close association with anxiety-like behaviors. C1 [Paseual, Rodrigo; Bustamante, Carlos] Pontificia Univ Catolica Valparaiso, Fac Ciencias, Escuela Kinesiol, Lab Neurociencias, Valparaiso, Chile. RP Paseual, R (reprint author), Pontificia Univ Catolica Valparaiso, Fac Ciencias, Escuela Kinesiol, Lab Neurociencias, Valparaiso, Chile. 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Exp. PY 2013 VL 73 IS 3 BP 387 EP 393 PG 7 WC Neurosciences SC Neurosciences & Neurology GA 241YW UT WOS:000326205600007 ER PT J AU Miller, J Ward, K AF Miller, Jenny Ward, Karen TI Academic-community partnerships in rural and frontier communities: improving services for children with autism and other developmental disabilities in Alaska SO INTERNATIONAL JOURNAL OF CIRCUMPOLAR HEALTH LA English DT Article C1 [Miller, Jenny] Univ Alaska Anchorage, Dept Hlth Sci, Anchorage, AK 99508 USA. [Ward, Karen] Univ Alaska Anchorage, Ctr Human Dev, Anchorage, AK USA. RP Miller, J (reprint author), Univ Alaska Anchorage, Dept Hlth Sci, Anchorage, AK 99508 USA. EM jenny.miller@uaa.alaska.edu CR Centers for Disease Control and Prevention, STRAT PLAN AUT SPECT NR 1 TC 0 Z9 0 PU CO-ACTION PUBLISHING PI JARFALLA PA RIPVAGEN 7, JARFALLA, SE-175 64, SWEDEN SN 1239-9736 EI 2242-3982 J9 INT J CIRCUMPOL HEAL JI Int. J. Circumpolar Health PY 2013 VL 72 SU 1 BP 395 EP 396 PG 2 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA 235LZ UT WOS:000325721900123 ER PT J AU Troili, GM Businaro, R Massoni, F Ricci, L Petrone, L Ricci, P Ricci, S AF Troili, G. M. Businaro, R. Massoni, F. Ricci, L. Petrone, L. Ricci, P. Ricci, S. TI Investigation on a group of autistic children: risk factors and medical social considerations SO CLINICA TERAPEUTICA LA Italian DT Article DE autism; risk analysis; medical social considerations ID SPECTRUM DISORDERS; AUTOIMMUNE-DISEASES; CORTICAL UNDERCONNECTIVITY; PESTICIDES; EXPOSURE; MERCURY; BEHAVIOR; WASTE; TASK; FMRI AB Aims. The aim of this work is to study the association between autism in a group of autistic children and risk factors for specific familiar diseases and developmental disease in the early years of life, through a medical social investigation. Materials and Methods. For this study, we have submitted an anamnestic questionnaire to 29 autistic children and their families in a South Italy region (Basilicata), collecting data about children and their parents. Results. The results show that many children have a family history of autoimmune diseases (psoriasis, rheumatoid arthritis, celiac disease, Takayasu's arteritis), allergies and food intolerances, suggesting a putative involvement of the immune system in autism etiopathogenesis. Analyzing residences areas of patients, Potenza and Matera, with their environmental factors (radioactive waste repositories, incinerators, intensive farming), we demonstrate that the particular territorial characteristics don't affect autism. Conclusions. Autistic disorder is a spectrum of neurologic disorders complex both in etiopathogenesis and healthcare. So we aim to continue the study already undertaken on cytokines of autistic subjects serum and to extend it through biomolecular approaches assessing the presence of specific genetic polymorphisms in order to identify the physiopathogenetic mechanisms underlying the disease and to evaluate the predictive risk with the aim to improve care interventions. C1 [Troili, G. M.; Massoni, F.; Ricci, L.; Petrone, L.; Ricci, P.; Ricci, S.] Univ Roma La Sapienza, Dipartimento Sci Anat Istol Med Legali & Apparato, Rome, Italy. [Businaro, R.] Univ Roma La Sapienza, Dipartimento Sci & Biotecnol Medicochirurg, Rome, Italy. RP Ricci, S (reprint author), Univ Roma La Sapienza, Dipartimento Sci Anat Istol Med Legali & Apparato, Rome, Italy. EM serafino.ricci@uniroma1.it CR Agenzia regionale per la protezione dell'ambiente di basilicata (ARPAB) Dipartimento Provinciale di Potenza, 2011, CAMP MON CON CAMP PA AL-Ayadhi LY, 2012, J NEUROINFLAMM, V9, DOI 10.1186/1742-2094-9-158 American Psychiatric Association, 2000, DIAGN STAT MAN MENT [Anonymous], 2012, MED T PROM EKOL, V39, P8 Atladottir HO, 2009, PEDIATRICS, V124, P687, DOI 10.1542/peds.2008-2445 Bilbo SD, 2012, AUTISM RES TREAT, V2012 Biri A, 2006, PLACENTA, V27, P327, DOI 10.1016/j.placenta.2005.01.002 Boulanger LM, 2009, NEURON, V64, P93, DOI 10.1016/j.neuron.2009.09.001 Braunschweig D, 2012, J AUTISM DEV DISORD, V42, P1435, DOI 10.1007/s10803-011-1378-7 Bremer AA, 2012, PEDIATRICS Businaro R., 2012, CURR GERONTOL GERIAT, V2012, DOI DOI 10.1155/2012/986823 Clarke C, 2012, HLTH ED RE Croen LA, 2005, ARCH PEDIAT ADOL MED, V159, P151, DOI 10.1001/archpedi.159.2.151 Damarla SR, 2010, AUTISM RES, V3, P273, DOI 10.1002/aur.153 Dhillon S, 2011, CURR GENOMICS, V12, P322, DOI 10.2174/138920211796429745 Flore LA, 2012, SEMIN PEDIATR NEUROL, V19, P173, DOI 10.1016/j.spen.2012.09.004 Gagnaire B, 2011, REV ENVIRON CONTAM T, V210, P35, DOI 10.1007/978-1-4419-7615-4_2 Garay Paula A, 2010, Front Synaptic Neurosci, V2, P136, DOI 10.3389/fnsyn.2010.00136 Gardener H, 2009, BRIT J PSYCHIAT, V195, P7, DOI 10.1192/bjp.bp.108.051672 Garrecht M, 2011, TOXICOL ENVIRON CHEM, V93, P1251, DOI 10.1080/02772248.2011.580588 Geier DA, 2012, INT J ENV RES PUB HE, V9, P4486, DOI 10.3390/ijerph9124486 Gerber JS, 2009, CLIN INFECT DIS, V48, P456, DOI 10.1086/596476 Herbert MR, 2010, CURR OPIN NEUROL, V23, P103, DOI 10.1097/WCO.0b013e328336a01f Istituto Nazionale di Economia Agraria (INEA), 2009, ASP EC AGR IRR BAS Just MA, 2007, CEREB CORTEX, V17, P951, DOI 10.1093/cercor/bhl006 Just MA, 2012, NEUROSCI BIOBEHAV R, V36, P1292, DOI 10.1016/j.neubiorev.2012.02.007 Kalkbrenner AE, 2010, EPIDEMIOLOGY, V21, P631, DOI 10.1097/EDE.0b013e3181e65d76 Keil A, 2010, EPIDEMIOLOGY, V21, P805, DOI 10.1097/EDE.0b013e3181f26e3f Kern JK, 2012, ACTA NEUROBIOL EXP, V72, P113 Kim SM, 2010, PSYCHIAT INVEST, V7, P122, DOI 10.4306/pi.2010.7.2.122 Kirillov V. 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Ter. PY 2013 VL 164 IS 4 SU S BP E273 EP E278 DI 10.7417/CT.2013.1587 PG 6 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA 234CN UT WOS:000325617700005 PM 24045522 ER PT J AU Oono, IP Honey, EJ McConachie, H AF Oono, Inalegwu P. Honey, Emma J. McConachie, Helen TI Parent-mediated early intervention for young children with autism spectrum disorders (ASD) SO COCHRANE DATABASE OF SYSTEMATIC REVIEWS LA English DT Review ID RANDOMIZED CONTROLLED-TRIAL; HOME-BASED INTERVENTION; INTENSIVE BEHAVIORAL TREATMENT; STONES TRIPLE P; DEVELOPMENTAL DELAY; JOINT ATTENTION; COMPREHENSIVE TREATMENTS; TRAINING INTERVENTION; PRESCHOOL-CHILDREN; PROGRAM AB Background Young children with autism spectrum disorders (ASD) have impairments in the areas of communication and social interaction and often display repetitive or non-compliant behaviour. This early pattern of difficulties is a challenge for parents. Therefore, approaches that help parents develop strategies for interaction and management of behaviour are an obvious route for early intervention in ASD. This review updates a Cochrane review first published in 2002 but is based on a new protocol. Objectives To assess the effectiveness of parent-mediated early interventions in terms of the benefits for both children with ASD and their parents and to explore some potential moderators of treatment effect. Search methods We searched a range of psychological, educational and biomedical databases including CENTRAL, MEDLINE, Embase, PsycINFO and ERIC in August 2012. As this is an update of a previous review, we limited the search to the period following the original searches in 2002. Bibliographies and reference lists of key articles were searched, field experts were contacted and key journals were handsearched. Selection criteria We included only randomised controlled trials of early intervention for children with ASD. The interventions in the experimental condition were mediated by parents; the control conditions included no treatment, treatment as usual, waiting list, alternative child-centred intervention not mediated by parents, or alternative parent-mediated intervention of hypothesised lesser effect than the experimental condition. Data collection and analysis Two review authors (HM and IPO) independently screened articles identified in the search and decided which articles should be retrieved in full. For each included study, two review authors (IPO and EH) extracted and recorded data, using a piloted data collection form. Two review authors (IPO and HM) assessed the risk of bias in each study. We performed data synthesis and analysis using The Cochrane Collaboration's Review Manager 5.1 software. Main results The review includes 17 studies from six countries (USA, UK, Australia, Canada, Thailand and China), which recruited 919 children with ASD. Not all 17 studies could be compared directly or combined in meta-analyses due to differences in the theoretical basis underpinning interventions, the duration and intensity of interventions, and the outcome measurement tools used. Data from subsets of 10 studies that evaluated interventions to enhance parent interaction style and thereby facilitate children's communication were included in meta-analyses. The largest meta-analysis combined data from 316 participants in six studies and the smallest combined data from 55 participants in two studies. Findings from the remaining seven studies were reported narratively. High risk of bias was evident in the studies in relation to allocation concealment and incomplete outcome data; blinding of participants was not possible. Overall, we did not find statistical evidence of gains from parent-mediated approaches in most of the primary outcomes assessed (most aspects of language and communication -whether directly assessed or reported; frequency of child initiations in observed parent-child interaction; child adaptive behaviour; parents' stress), with findings largely inconclusive and inconsistent across studies. However, the evidence for positive change in patterns of parent-child interaction was strong and statistically significant (shared attention: standardised mean difference (SMD) 0.41; 95% confidence interval (CI) 0.14 to 0.68, P value < 0.05; parent synchrony: SMD 0.90; 95% CI 0.56 to 1.23, P value < 0.05). Furthermore, there is some evidence suggestive of improvement in child language comprehension, reported by parents (vocabulary comprehension: mean difference (MD 36.26; 95% CI 1.31 to 71.20, P value < 0.05). In addition, there was evidence suggesting a reduction in the severity of children's autism characteristics (SMD -0.30, 95% CI -0.52 to -0.08, P value < 0.05). However, this evidence of change in children's skills and difficulties as a consequence of parent-mediated intervention is uncertain, with small effect sizes and wide CIs, and the conclusions are likely to change with future publication of high-quality RCTs. Authors' conclusions The review finds some evidence for the effectiveness of parent-mediated interventions, most particularly in proximal indicators within parent-child interaction, but also in more distal indicators of child language comprehension and reduction in autism severity. Evidence of whether such interventions may reduce parent stress is inconclusive. The review reinforces the need for attention to be given to early intervention service models that enable parents to contribute skilfully to the treatment of their child with autism. However, practitioners supporting parent-mediated intervention require to monitor levels of parent stress. The ability to draw conclusions from studies would be improved by researchers adopting a common set of outcome measures as the quality of the current evidence is low. C1 [Oono, Inalegwu P.; McConachie, Helen] Newcastle Univ, Inst Hlth & Soc, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England. [Honey, Emma J.] Northumberland Tyne & Wear NHS Fdn Trust, Complex Neurodev Disorders Serv, Newcastle Upon Tyne, Tyne & Wear, England. RP McConachie, H (reprint author), Newcastle Univ, Inst Hlth & Soc, Sir James Spence Inst, Victoria Rd, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England. EM h.r.mcconachie@newcastle.ac.uk FU The Nuffield Foundation, UK FX External sourcesThe Nuffield Foundation, UK. 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PY 2013 IS 4 AR CD009774 DI 10.1002/14651858.CD009774.pub2 PG 101 WC Medicine, General & Internal SC General & Internal Medicine GA 167SK UT WOS:000320654500034 ER PT J AU Brentani, H de Paula, CS Bordini, D Rolim, D Sato, F Portolese, J Pacifico, MC McCracken, JT AF Brentani, Helena de Paula, Cristiane Silvestre Bordini, Daniela Rolim, Deborah Sato, Fabio Portolese, Joana Pacifico, Maria Clara McCracken, James T. TI Autism spectrum disorders: an overview on diagnosis and treatment SO REVISTA BRASILEIRA DE PSIQUIATRIA LA English DT Article DE Autistic disorder; pervasive development disorders; diagnosis, treatment ID PERVASIVE DEVELOPMENTAL DISORDERS; PLACEBO-CONTROLLED TRIAL; DEFICIT HYPERACTIVITY DISORDER; DOUBLE-BLIND; BEHAVIORAL SYMPTOMS; REPETITIVE BEHAVIORS; LANGUAGE IMPAIRMENT; PRESCHOOL-CHILDREN; CROSSOVER TRIAL; RATING-SCALE AB Pervasive developmental disorders are now commonly referred to as autism spectrum disorders (ASDs). ASDs present with a range of severity and impairments, and often are a cause of severe disability, representing a major public health concern. The diagnostic criteria require delays or abnormal functioning in social interaction, language, and/or imaginative play within the first 3 years of life, resulting in a deviation from the developmental pattern expected for the age. Because establishing a diagnosis of ASD is possible as early as 18-24 months of age, clinicians should strive to identify and begin intervention in children with ASD as soon as signs are manifest. Increasing efforts are underway to make ASD screening universal in pediatric healthcare. Given the crucial importance of early identification and multiple modalities of treatment for ASD, this review will summarize the diagnostic criteria, key areas for assessment by clinicians, specific scales and instruments for assessment, and discussion of evidence-based treatment programs and the role of specific drug therapies for symptom management. C1 [Brentani, Helena] Univ Sao Paulo, Sch Med, Dept Psychiat, BR-05403010 Sao Paulo, Brazil. [Brentani, Helena; Rolim, Deborah; Sato, Fabio; Portolese, Joana; Pacifico, Maria Clara] Univ Sao Paulo, Sch Med, Inst Psychiat, Autism Spectrum Program, BR-05403010 Sao Paulo, Brazil. [de Paula, Cristiane Silvestre; Bordini, Daniela] Univ Fed Sao Paulo, Dept Psychiat, Child & Adolescent Psychiat Unit, Sao Paulo, Brazil. [de Paula, Cristiane Silvestre] Univ Presbiteriana Mackenzie, Hlth & Biol Sci Ctr, Grad Program Dev Disorders, Sao Paulo, Brazil. [McCracken, James T.] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90024 USA. RP Brentani, H (reprint author), Univ Sao Paulo, Rua Dr Ovidio Pires Campos S-N, BR-05403010 Sao Paulo, Brazil. EM helena.brentani@gmail.com FU Seaside Therapeutics; Roche; Otsuka FX James T. McCracken receives a research grant from Seaside Therapeutics, Roche, and Otsuka, works as a consultant for Roche, and has some works with Roche and Novartis. The other authors report no conflicts of interest. 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PY 2013 VL 35 SU 1 BP S62 EP S72 DI 10.1590/1516-4446-2013-S104 PG 11 WC Psychiatry SC Psychiatry GA 235SX UT WOS:000325742100008 PM 24142129 ER PT J AU Siniscalco, D Bradstreet, JJ Sych, N Antonucci, N AF Siniscalco, Dario Bradstreet, James Jeffrey Sych, Nataliia Antonucci, Nicola TI Perspectives on the Use of Stem Cells for Autism Treatment SO STEM CELLS INTERNATIONAL LA English DT Review ID MESENCHYMAL STROMAL CELLS; AMNIOTIC EPITHELIAL-CELLS; SPECTRUM DISORDERS; CELLULAR-THERAPY; IMMUNOMODULATORY PROPERTIES; REGENERATIVE MEDICINE; INTERNATIONAL-SOCIETY; NEUROTROPHIC FACTORS; PURKINJE-CELLS; PLURIPOTENCY AB Autism and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders. ASDs are clinically defined by deficits in communication, social skills, and repetitive and/or restrictive interests and behaviours. With the prevalence rates for ASDs rapidly increasing, the need for effective therapies for autism is a priority for biomedical research. Currently available medications do not target the core symptoms, can have markedly adverse side-effects, and are mainly palliative for negative behaviours. The development of molecular and regenerative interventions is progressing rapidly, and medicine holds great expectations for stem cell therapies. Cells could be designed to target the observed molecular mechanisms of ASDs, that is, abnormal neurotransmitter regulation, activated microglia, mitochondrial dysfunction, blood-brain barrier disruptions, and chronic intestinal inflammation. Presently, the paracrine, secretome, and immunomodulatory effects of stem cells would appear to be the likely mechanisms of application for ASD therapeutics. This review will focus on the potential use of the various types of stem cells: embryonic, induced pluripotential, fetal, and adult stem cells as targets for ASD therapeutics. C1 [Siniscalco, Dario] Univ Naples 2, Dept Expt Med, I-80138 Naples, Italy. [Siniscalco, Dario] La Forza Silenzio, Ctr Autism, I-81036 Caserta, Italy. [Siniscalco, Dario] Cancellautismo, I-50132 Florence, Italy. [Bradstreet, James Jeffrey] Chateau Elan, Int Child Dev Resource Ctr, Braselton, GA 30517 USA. [Sych, Nataliia] Cell Therapy Ctr EmCell, Clin Dept, UA-04073 Kiev, Ukraine. [Antonucci, Nicola] Biomed Ctr Autism Res & Treatment, I-70126 Bari, Italy. RP Siniscalco, D (reprint author), Univ Naples 2, Dept Expt Med, Via S Maria di Costantinopoli 16, I-80138 Naples, Italy. 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PY 2013 DI 10.1155/2013/262438 PG 7 WC Cell & Tissue Engineering SC Cell Biology GA 238HW UT WOS:000325937200001 ER PT J AU Careaga, M Hansen, RL Hertz-Piccotto, I Van de Water, J Ashwood, P AF Careaga, Milo Hansen, Robin L. Hertz-Piccotto, Irva Van de Water, Judy Ashwood, Paul TI Increased Anti-Phospholipid Antibodies in Autism Spectrum Disorders SO MEDIATORS OF INFLAMMATION LA English DT Article ID SYSTEMIC LUPUS-ERYTHEMATOSUS; ANTICARDIOLIPIN ANTIBODIES; IMMUNE DYSFUNCTION; INFECTIOUS ORIGIN; BRAIN-TISSUE; CHILDREN; AUTOANTIBODIES; BINDING; MYELIN; SERUM AB Autism spectrum disorders (ASD) are characterized by impairments in communication, social interactions, and repetitive behaviors. While the etiology of ASD is complex and likely involves the interplay of genetic and environmental factors, growing evidence suggests that immune dysfunction and the presence of autoimmune responses including autoantibodies may play a role in ASD. Anti-phospholipid antibodies are believed to occur from both genetic and environmental factors and have been linked to a number of neuropsychiatric symptoms such as cognitive impairments, anxiety, and repetitive behaviors. In the current study, we investigated whether there were elevated levels of anti-phospholipid antibodies in a cross-sectional analysis of plasma of young children with ASD compared to age-matched typically developing (TD) controls and children with developmental delays (DD) other than ASD. We found that levels of anti-cardiolipin, beta 2-glycoprotein 1, and anti-phosphoserine antibodies were elevated in children with ASD compared with age-matched TD and DD controls. Further, the increase in antibody levels was associated with more impaired behaviors reported by parents. This study provides the first evidence for elevated production of anti-phospholipid antibodies in young children with ASD and provides a unique avenue for future research into determining possible pathogenic mechanisms that may underlie some cases of ASD. C1 [Careaga, Milo; Ashwood, Paul] Univ Calif Davis, Dept Med Microbiol & Immunol, Davis, CA 95817 USA. [Careaga, Milo; Hansen, Robin L.; Hertz-Piccotto, Irva; Van de Water, Judy; Ashwood, Paul] Univ Calif Davis, MIND Inst, Davis, CA 95817 USA. [Hansen, Robin L.] Univ Calif Davis, Dept Pediat, Davis, CA 95817 USA. [Hertz-Piccotto, Irva] Univ Calif Davis, Div Epidemiol, Dept Publ Hlth Sci, Davis, CA 95817 USA. [Van de Water, Judy] Univ Calif Davis, Div Rheumatol Allergy & Clin Immunol, Davis, CA 95817 USA. RP Ashwood, P (reprint author), Univ Calif Davis, Dept Med Microbiol & Immunol, Davis, CA 95817 USA. 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Inflamm. PY 2013 AR 935608 DI 10.1155/2013/935608 PG 7 WC Cell Biology; Immunology SC Cell Biology; Immunology GA 230GP UT WOS:000325325400001 ER PT J AU Carminati, GG Lehotkay, R Martin, F Carminati, F AF Carminati, Giuliana Galli Lehotkay, Rachel Martin, Franois Carminati, Federico TI An Hypothesis about Jung's Collective Unconscious and Animal-assisted Therapy SO NEUROQUANTOLOGY LA English DT Article DE Jung's collective unconscious; Animal-assisted therapy; autism spectrum disorder; intellectual disability; behavioural disorders ID QUANTUM-MECHANICS; ENVIRONMENTAL DECOHERENCE; FACILITATED THERAPY; MIND EFFORTS; CHILDREN; DEPRESSION; CONSCIOUSNESS; DISABILITIES; AUTISM; DOGS AB Jung has described the collective unconscious as a layered structure starting from a central fire (Jung 1925), and composed by several groups (layers) of beings arriving progressively to the individual. In this schema Jung describes animal ancestors as one of the more ancient groups involved in human development. We relate this vision of the unconscious to our clinical experience with animal assisted therapy. Although properly speaking, animal-assisted therapy is not a new technique, we have adapted the approach to a specific context of intervention as a complement to conventional therapy, where the animal plays an intermediary role between therapist and patient. In case of patients presenting psychiatric disorders, animal-assisted therapy with a dog permitted a significant decrease in behavioural troubles with a real improvement of mood. Animal assisted therapy, used in the context of other therapeutic mediations, appears to have a significant impact in the population with severe autism spectrum disorders that cannot be easily treated verbally. In this study we explore the hypothesis that the improvement of the relationship with the others, obtained via the animal, can be related to a rewinding of the patient's unconscious to very primitive phases of his development. The patient relinks himself with a very ancient (temporally far and yet present) component of his unconscious. The present study offers elements of reflexion involving the therapeutic process in animal-assisted therapy and the Jungian theory of the collective unconscious. C1 [Carminati, Giuliana Galli] Assoc TRAvail Groupal Therapeut & Social ASTRAG &, CH-1202 Geneva, Swityerland, Switzerland. [Lehotkay, Rachel] Univ Hosp Geneva, Dept Psychiat, Adult Psychiat Serv, Mental Dev Psychiat Unit, Geneva, Switzerland. [Martin, Franois] CNRS, F-75700 Paris, France. [Carminati, Federico] CERN, CH-1211 Geneva 23, Switzerland. RP Carminati, GG (reprint author), Assoc TRAvail Groupal Therapeut & Social ASTRAG &, Rue Tronchin 4, CH-1202 Geneva, Swityerland, Switzerland. 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H., 2007, ARXIV07072832V1 Zurek WH, 1998, ARXIVQUANTPH9805065 NR 112 TC 0 Z9 0 PU ANKA PUBLISHER PI BORNOVA PA 116-11 SOK NO.10 K 2 D 2, BORNOVA, IZMIR 35050, TURKEY SN 1303-5150 J9 NEUROQUANTOLOGY JI NeuroQuantology PY 2013 VL 11 IS 3 BP 451 EP 465 PG 15 WC Neurosciences SC Neurosciences & Neurology GA 228QM UT WOS:000325201400010 ER PT J AU Schipper, M Kullik, A Samson, AC Koglin, U Petermann, F AF Schipper, Marc Kullik, Angelika Samson, Andrea C. Koglin, Ute Petermann, Franz TI Emotion dysregulation in childhood SO PSYCHOLOGISCHE RUNDSCHAU LA German DT Article DE emotion dysregulation; internalizing and externalizing disorders; autism spectrum disorder (ASD); childhood ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDERS; ANXIETY DISORDERS; ASPERGER-SYNDROME; INDIVIDUAL-DIFFERENCES; AGGRESSIVE-BEHAVIOR; MATERNAL-BEHAVIOR; MIDDLE CHILDHOOD; YOUNG-PEOPLE; CHILDREN AB Emotion dysregulation is considered in the context of anxiety disorders and aggressive behavior in childhood; an additional focus lies on the role of emotion regulation in autism spectrum disorder. Several dysfunctional regulation strategies are identified. A brief overview on emotion dysregulation in child psychopathology is provided. Based on the reported findings the question whether and in how far dysfunctional regulation strategies can be viewed as a transdiagnostical factor is raised. 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Rundsch. PY 2013 VL 64 IS 4 BP 228 EP 234 DI 10.1026/0033-3042/a000175 PG 7 WC Psychology, Multidisciplinary SC Psychology GA 226AO UT WOS:000325006800005 ER PT J AU Rutter, P Taylor, D Branford, D AF Rutter, Paul Taylor, Denise Branford, Dave TI Mental Health Curricula at Schools of Pharmacy in the United Kingdom and Recent Graduates' Readiness to Practice SO AMERICAN JOURNAL OF PHARMACEUTICAL EDUCATION LA English DT Article DE mental health; pharmacy education; graduate; curriculum ID RISK-FACTORS; SCHIZOPHRENIA; DISORDERS; STUDENTS; NONADHERENCE; MEDICATION; ATTITUDES; PEOPLE; BURDEN AB Objective. To assess mental health education in the undergraduate pharmacy curricula in the United Kingdom and gauge how well prepared graduates are to manage mental health patients. Method. The authors conducted semi-structured telephone interviews with pharmacy educators and administered an electronic self-administered survey instrument to pharmacy graduates. Results. The mental health conditions of depression, schizophrenia, bipolar disorder, and Parkinson disease were taught, in detail, by all schools, but more specialized areas of mental health (eg, personality disorder, autism) were generally not taught. Just 5 of 19 schools attempted to teach the broader social aspects of mental health. A third of the schools provided experiential learning opportunities. Graduates and recently registered pharmacists stated that undergraduate education had prepared them adequately with regard to knowledge on conditions and treatment options, but that they were not as well prepared to talk with mental health patients and deal with practical drug management-related issues. Conclusion. The mental health portion of the undergraduate pharmacy curricula in colleges and schools of pharmacy in the United Kingdom is largely theoretical, and pharmacy students have little exposure to mental health patients. Graduates identified an inability to effectively communicate with these patients and manage common drug management-related issues. C1 [Rutter, Paul] Wolverhampton Univ, Wolverhampton WV1 1SB, England. [Taylor, Denise] Coll Mental Hlth Pharm, Oxford, England. [Branford, Dave] Derbyshire Healthcare Natl Hlth Serv Fdn Trust, Derby, England. RP Rutter, P (reprint author), Wolverhampton Univ, Dept Pharm, Wulfruna St, Wolverhampton WV1 1SB, England. EM paul.rutter@wlv.ac.uk FU College of Mental Health Pharmacy FX This work was supported by a grant from The College of Mental Health Pharmacy. 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J. Pharm. Educ. PY 2013 VL 77 IS 7 AR 147 PG 7 WC Education, Scientific Disciplines; Pharmacology & Pharmacy SC Education & Educational Research; Pharmacology & Pharmacy GA 217RZ UT WOS:000324379300012 PM 24052650 ER PT J AU Giulivi, C Napoli, E Schwartzer, J Careaga, M Ashwood, P AF Giulivi, Cecilia Napoli, Eleonora Schwartzer, Jared Careaga, Milo Ashwood, Paul TI Gestational Exposure to a Viral Mimetic Poly(I:C) Results in Long-Lasting Changes in Mitochondrial Function by Leucocytes in the Adult Offspring SO MEDIATORS OF INFLAMMATION LA English DT Article ID AUTISM SPECTRUM DISORDERS; PREECLAMPSIA-LIKE SYMPTOMS; PRONE BB RAT; PRENATAL INFECTION; MATERNAL INFECTION; BRAIN-DEVELOPMENT; GENE-EXPRESSION; INNATE IMMUNITY; OXIDATIVE-PHOSPHORYLATION; ELECTRON-TRANSPORT AB Maternal immune activation (MIA) is a potential risk factor for autism spectrum disorder ( ASD) and schizophrenia ( SZ). In rodents, MIA results in changes in cytokine profiles and abnormal behaviors in the offspring that model these neuropsychiatric conditions. Given the central role that mitochondria have in immunity and other metabolic pathways, we hypothesized that MIA will result in a fetal imprinting that leads to postnatal deficits in the bioenergetics of immune cells. To this end, splenocytes from adult offspring exposed gestationally to the viral mimic poly(I: C) were evaluated for mitochondrial outcomes. Asignificant decrease in mitochondrial ATP production was observed in poly( I: C)-treated mice (45% of controls) mainly attributed to a lower complex I activity. No differences were observed between the two groups in the coupling of electron transport to ATP synthesis, or the oxygen uptake under uncoupling conditions. Concanavalin A-(ConA-) stimulated splenocytes from poly(I: C) animals showed no statistically significant changes in cytokine levels compared to controls. The present study reports for the first time that MIA activation by poly(I: C) at early gestation, which can lead to behavioral impairments in the offspring similar to SZ and ASD, leads to long-lasting effects in the bioenergetics of splenocytes of adult offspring. C1 [Giulivi, Cecilia; Napoli, Eleonora] Univ Calif Davis, Sch Vet Med, Dept Mol Biosci, Davis, CA 95616 USA. [Giulivi, Cecilia; Schwartzer, Jared; Careaga, Milo; Ashwood, Paul] Univ Calif Davis, Med Invest Neurodev Disorders MIND Inst, Davis, CA 95616 USA. [Careaga, Milo; Ashwood, Paul] Univ Calif Davis, Sch Med, Dept Med Microbiol & Immunol, Davis, CA 95616 USA. RP Giulivi, C (reprint author), Univ Calif Davis, Sch Vet Med, Dept Mol Biosci, Davis, CA 95616 USA. EM cgiulivi@ucdavis.edu FU fromthe Simons Foundation [271406]; NIEHS [R01ES011269, R01-ES015359, R01-ES020392]; Autism Speaks Foundation; NARSAD Foundation; Jane Botsford Johnson Foundation; Peter Emch Foundation FX This study was performed under the funding fromthe Simons Foundation (no. 271406 to Cecilia Giulivi), NIEHS R01ES011269, R01-ES015359, and R01-ES020392, Autism Speaks Foundation, NARSAD Foundation, Jane Botsford Johnson Foundation, and Peter Emch Foundation. The abovementioned funding agencies were not responsible for the design and conduct of the study; collection, management, analysis, and interpretation of the data; and preparation, review, or approval of this paper. The authors of this publication declare that they have no conflicting financial interest in relation to the work described. Cecilia Giulivi, designed this study andwrote the paper; EleonoraNapoli performed all work related to mitochondrial outcomes, contributed to the writing of the paper, and analyzed the data; Jared Schwartzer and Milo Careaga performed the animal exposures, immune response, collected the cells utilized in this study, and reviewed the paper; Paul Ashwood designed the treatment of animals and contributed to the writing of the paper. 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PY 2013 AR 609602 DI 10.1155/2013/609602 PG 8 WC Cell Biology; Immunology SC Cell Biology; Immunology GA 225IH UT WOS:000324955200001 ER PT J AU Williams, K Brignell, A Randall, M Silove, N Hazell, P AF Williams, Katrina Brignell, Amanda Randall, Melinda Silove, Natalie Hazell, Philip TI Selective serotonin reuptake inhibitors (SSRIs) for autism spectrum disorders (ASD) SO COCHRANE DATABASE OF SYSTEMATIC REVIEWS LA English DT Review DE Age Factors; Autistic Disorder [drug therapy; psychology]; Citalopram [therapeutic use]; Fenfluramine [therapeutic use]; Fluoxetine [therapeutic use]; Fluvoxamine [therapeutic use]; Obsessive-Compulsive Disorder [drug therapy]; Randomized Controlled Trials as Topic; Serotonin Uptake Inhibitors [therapeutic use]; Adult; Child; Humans ID OBSESSIVE-COMPULSIVE SCALE; PERVASIVE DEVELOPMENTAL DISORDERS; DOUBLE-BLIND; REPETITIVE BEHAVIORS; MEDICATION USE; CHILDREN; PLACEBO; FLUOXETINE; CLOMIPRAMINE; CHILDHOOD AB Background Autism spectrum disorders (ASD) are characterised by abnormalities in social interaction and communication skills, as well as stereotypic behaviours and restricted activities and interests. Selective serotonin reuptake inhibitors (SSRIs) are prescribed for the treatment of conditions often comorbid with ASD such as depression, anxiety and obsessive-compulsive behaviours. Objectives To determine if treatment with an SSRI: 1. improves the core features of autism (social interaction, communication and behavioural problems); 2. improves other non-core aspects of behaviour or function such as self-injurious behaviour; 3. improves the quality of life of adults or children and their carers; 4. has short-and long-term effects on outcome; 5. causes harm. Search methods We searched the following databases up until March 2013: CENTRAL, Ovid MEDLINE, Embase, CINAHL, PsycINFO, ERIC and Sociological Abstracts. We also searched ClinicalTrials.gov and the International Clinical Trials Registry Platform (ICTRP). This was supplemented by searching reference lists and contacting known experts in the field. Selection criteria Randomised controlled trials (RCTs) of any dose of oral SSRI compared with placebo, in people with ASD. Data collection and analysis Two authors independently selected studies for inclusion, extracted data and appraised each study's risk of bias. Main results Nine RCTs with a total of 320 participants were included. Four SSRIs were evaluated: fluoxetine (three studies), fluvoxamine (two studies), fenfluramine (two studies) and citalopram (two studies). Five studies included only children and four studies included only adults. Varying inclusion criteria were used with regard to diagnostic criteria and intelligence quotient of participants. Eighteen different outcome measures were reported. Although more than one study reported data for Clinical Global Impression (CGI) and obsessive-compulsive behaviour (OCB), different tool types or components of these outcomes were used in each study. As such, data were unsuitable for meta-analysis, except for one outcome (proportion improvement). One large, high-quality study in children showed no evidence of positive effect of citalopram. Three small studies in adults showed positive outcomes for CGI and OCB; one study showed improvements in aggression, and another in anxiety. Authors' conclusions There is no evidence of effect of SSRIs in children and emerging evidence of harm. There is limited evidence of the effectiveness of SSRIs in adults from small studies in which risk of bias is unclear. C1 [Williams, Katrina; Brignell, Amanda; Randall, Melinda] Univ Melbourne, Dept Paediat, Royal Childrens Hosp, Parkville, Vic 3052, Australia. [Williams, Katrina] Royal Childrens Hosp, Clin Off 3W, Parkville, Vic 3052, Australia. [Williams, Katrina] Murdoch Childrens Res Inst, Parkville, Vic, Australia. [Silove, Natalie] Childrens Hosp Westmead, Child Dev Unit, Westmead, NSW, Australia. [Hazell, Philip] Sydney Med Sch, Discipline Psychiat, Concord West, Australia. RP Williams, K (reprint author), Univ Melbourne, Dept Paediat, Royal Childrens Hosp, Parkville, Vic 3052, Australia. EM katrina.williams@rch.org.au RI Williams, Katrina/B-6828-2015 OI Williams, Katrina/0000-0002-1686-4458 FU Small Grants Scheme, The Children's Hospital at Westmead, Sydney, Australia; Financial Markets Foundation for Children, Australia; Department of Health and Aging, Australia; Cochrane Entities FX Internal sourcesSmall Grants Scheme, The Children's Hospital at Westmead, Sydney, Australia.External sourcesFinancial Markets Foundation for Children, Australia.Department of Health and Aging, Australia.Cochrane Entities funding CR Aman MG, 2005, J CHILD ADOL PSYCHOP, V15, P116, DOI 10.1089/cap.2005.15.116 American Psychiatric Association, 1987, DIAGN STAT MAN MENT American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th American Psychiatric Association, 2013, DIAGN STAT MAN MENT American Psychiatric Association, 1980, DIAGN STAT MAN MENT BARTHELEMY C, 1989, J AUTISM DEV DISORD, V19, P241, DOI 10.1007/BF02211844 Billstedt E, 2005, J AUTISM DEV DISORD, V35, P351, DOI 10.1007/s10803-005-3302-5 Bodfish J.W., 1999, REPETITIVE BEHAV SCA Branford D, 1998, J INTELL DISABIL RES, V42, P301, DOI 10.1046/j.1365-2788.1998.00144.x Buchsbaum MS, 2001, INT J NEUROPSYCHOPH, V4, P119 Cook Edwin H. 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PY 2013 IS 8 AR CD004677 DI 10.1002/14651858.CD004677.pub3 PG 51 WC Medicine, General & Internal SC General & Internal Medicine GA 211RT UT WOS:000323928600027 ER PT J AU Al-Ayadhi, LY Elamin, NE AF Al-Ayadhi, Laila Y. Elamin, Nadra Elyass TI Camel Milk as a Potential Therapy as an Antioxidant in Autism Spectrum Disorder (ASD) SO EVIDENCE-BASED COMPLEMENTARY AND ALTERNATIVE MEDICINE LA English DT Article ID INCREASED LIPID-PEROXIDATION; RANDOMIZED CONTROLLED-TRIAL; OXIDATIVE STRESS; SUPEROXIDE-DISMUTASE; PARKINSONS-DISEASE; ENERGY-METABOLISM; GLYCEMIC CONTROL; CHILDREN; MYELOPEROXIDASE; ENZYMES AB Extensive studies have demonstrated that oxidative stress plays a vital role in the pathology of several neurological diseases, including autism spectrum disorder (ASD); those studies proposed that GSH and antioxidant enzymes have a pathophysiological role in autism. Furthermore, camel milk has emerged to have potential therapeutic effects in autism. The aim of the current study was to evaluate the effect of camel milk consumption on oxidative stress biomarkers in autistic children, by measuring the plasma levels of glutathione, superoxide dismutase, and myeloperoxidase before and 2 weeks after camel milk consumption, using the ELISA technique. All measured parameters exhibited significant increase after camel milk consumption (P < 0.5). These findings suggest that camel milk could play an important role in decreasing oxidative stress by alteration of antioxidant enzymes and nonenzymatic antioxidant molecules levels, as well as the improvement of autistic behaviour as demonstrated by the improved Childhood Autism Rating Scale (CARS). C1 [Al-Ayadhi, Laila Y.] King Saud Univ, Dept Physiol, Fac Med, Riyadh 11461, Saudi Arabia. [Elamin, Nadra Elyass] King Saud Univ, Fac Med, Autism Res & Treatment Ctr, Shaik Al Amodi Autism Res Chair, Riyadh 11461, Saudi Arabia. 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SO MEDICINA-BUENOS AIRES LA Spanish DT Article DE autism; language; DSM-IV; DSM-V ID WILLIAMS-SYNDROME; IMPAIRMENT; CHILDREN; ASSOCIATION; VALIDATION; INTERVIEW AB Autism spectrum disorder and specific language disorder are two different entities or a continuum of neuropsychological manifestations? Follow-up of children with delayed language development underscores the fact that, in several cases, language difficulties coexist with other symptoms such as social behavior changes. Autism spectrum disorder (ASD) and language specific disorder (LSD) are developmental disorders that are defined differently, but have some common language and social behavior characteristics which impose diagnostic difficulties. For this reason it is believed that they may share not only symptomatic but also ethiological aspects. With that in mind, we performed a literature search of works that discussed and, with their results, clarified this issue. Although several studies have allowed clearer and frequent diagnosis of both ASD and LSD, many cases persist in which the question in this article's title cannot be clearly answered, especially in children younger than two years of age. C1 Univ Fed Rio Grande do Sul, BR-90430181 Porto Alegre, RS, Brazil. RP Rotta, NT (reprint author), Univ Fed Rio Grande do Sul, Rua Mariante,239-202 Rio Branco, BR-90430181 Porto Alegre, RS, Brazil. 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The evolution of autism symptoms during life were revised, from childhood to adulthood. Little information is available. After a search in PubMed, no more than 40 publications address this issue. The review was divided into two parts: a) how change the three main symptoms of autism change; b) how change the other autism-associated symptoms. The three main symptoms, called "Triad of Wing" (communication problems, social skills deficits, and a restricted repertoire of interests) do not change significantly during lifetime. The diagnosis of autism remains stable during lifetime, and 80% of children continue with this diagnosis in adulthood. Furthermore, it is difficult to establish first diagnostic of autism in adults. In relation to the associated symptoms, one of the earliest are sleep disturbances and one of the most prevalent is both bipolar and anxiety disorders. Sleep disturbances are age-limited and disappear easily. Bipolar disorders are usually more severe in children with autism when compared to children without autism. The mood transitions are faster in autistic children. Anxiety is usually more intense in cognitive preserved autistic patients and tends to increase with age. The two main prognostic factors for autism in adults are: a) total IQ above 70. b) functional language before 6 years of age. C1 [Riesgo, Rudimar Dos Santos; Becker Josiane Ranzan, Michele Michelin; Bragatti Winckler, Maria Isabel; Ohlweiler, Lygia] Univ Fed Rio Grande do Sul, HCPA, Unidade Neuropediat, Porto Alegre, RS, Brazil. RP Riesgo, RD (reprint author), Rua Gen Rondon,165 Casa 13, BR-91900120 Porto Alegre, RS, Brazil. 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A model of explanation for the understanding of the genesis in autism spectrum disorders SO MEDICINA-BUENOS AIRES LA Spanish DT Article DE autism; epigenetic; Rett syndrome; fragile X syndrome; Angelman syndrome ID FRAGILE-X-SYNDROME; DNA METHYLATION; DEVELOPMENTAL DISORDERS; ENVIRONMENTAL SIGNALS; ADULT HYPERTENSION; RETT-SYNDROME; MEMORY; MECP2; EXPRESSION; PLACENTA AB Autism and epigenetic. Autism spectrum disorders are characterized by impairment of social integration and language development and restricted interests. Autism spectrum disorders manifest during childhood and may have a varying clinical expression over the years related to different therapeutic approaches, behavior-modifying drugs, and environmental factors, among others. So far, the genetic alterations identified are not sufficient to explain the genesis of all these processes, as many of the mutations found are also present in unaffected individuals. Findings on the underlying biological and pathophysiological mechanisms of entities strongly associated with autism spectrum disorders, such as Rett, fragile X, Angelman, and fetal alcohol syndromes, point to the role of epigenetic changes in disorders of neurodevelopment. Epigenetic phenomena are normal biological processes necessary for cell and thus human life, especially related to embryonic development. Different phenomena that affect epigenetic processes (changes that change operation or expression of a gene, without modifying the DNA structure) have also been shown to be important in the genesis of neurodevelopmental disorders. Alterations in the epigenetic mechanism may be reversible, which may explain the variation in the autism phenotype over time. Here we analyze the normal epigenetic mechanisms, autism spectrum disorders, their association with specific entities associated with altered epigenetic mechanisms, and possible therapeutic approaches targeting these alterations. 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SO SCIENTIFIC WORLD JOURNAL LA English DT Article ID SPECTRUM DISORDERS; COMMUNICATION DISORDERS; INTERRATER RELIABILITY; CHILDREN; INTERVIEW; TODDLERS AB Comprehensive clinical diagnosis based on all available information is considered the "gold standard" in autism spectrum disorders (ASD). We examined agreement across independent assessments (clinical judgment) of 34 young children (age 24-46 months) with suspected ASD, assessed by a multidisciplinary team, and final comprehensive clinical diagnosis. Agreement across settings and between each clinician's assessment and final diagnosis was moderate. The poorest fit was found at assessment in connection with psychological evaluation and the best with preschool observation and parent interview. Some individual clinicians had good and others had poor fit with final diagnosis. Disagreement across assessments was pronounced for girls. The findings suggest that multidisciplinary assessments remain important and that comprehensive clinical diagnosis should still be regarded as the gold standard in ASD. C1 [Andersson, Gunilla Westman; Miniscalco, Carmela; Gillberg, Christopher] Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, S-41119 Gothenburg, Sweden. RP Andersson, GW (reprint author), Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, Kungsgatan 12, S-41119 Gothenburg, Sweden. EM gunilla.andersson@gnc.gu.se FU Annmari and Per Ahlqvist Foundation; Wilhelm and Martina Lundgren Foundation; Swedish Science Council [B41-f 1883/09]; ALF FX The authors want to thank the staff at the CNC, all the children, and parents, for their help in making this study possible. Anders Pehrson and Nils-Gunnar Pehrson, and Statistiska konsultgruppen gave advice and performed the statistical analyses. The study was supported by grants from the Annmari and Per Ahlqvist Foundation, the Wilhelm and Martina Lundgren Foundation, and the Swedish Science Council (Grant no. B41-f 1883/09) and ALF for Christopher Gillberg. 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Recent findings show that the major underlying pathogenetic mechanisms of autism are hypoperfusion and immune alterations in the brain. So conceptually, cellular therapy which facilitates counteractive processes of improving perfusion by angiogenesis and balancing inflammation by immune regulation would exhibit beneficial clinical effects in patients with autism. This is an open label proof of concept study of autologous bone marrow mononuclear cells (BMMNCs) intrathecal transplantation in 32 patients with autism followed by multidisciplinary therapies. All patients were followed up for 26 months (mean 12.7). Outcome measures used were ISAA, CGI, and FIM/Wee-FIM scales. Positron Emission Tomography-Computed Tomography (PET-CT) scan recorded objective changes. Out of 32 patients, a total of 29 (91%) patients improved on total ISAA scores and 20 patients (62%) showed decreased severity on CGI-I. The difference between pre- and postscores was statistically significant (P<0.001) on Wilcoxon matched-pairs signed rank test. On CGI-II 96% of patients showed global improvement. The efficacy was measured on CGI-III efficacy index. Few adverse events including seizures in three patients were controlled with medications. The encouraging results of this leading clinical study provide future directions for application of cellular therapy in autism. C1 [Sharma, Alok; Gokulchandran, Nandini; Badhe, Prerna] Surana Sethia Hosp & Res Ctr, NeuroGen Brain & Spine Inst, Dept Med Serv & Clin Res, Bombay 400071, Maharashtra, India. [Sane, Hemangi; Kulkarni, Pooja] Surana Sethia Hosp & Res Ctr, NeuroGen Brain & Spine Inst, Dept Res & Dev, Bombay 400071, Maharashtra, India. [Nagrajan, Anjana; Paranjape, Amruta; Shetty, Akshata; Mishra, Priti; Kali, Mrudula; Biju, Hema] Surana Sethia Hosp & Res Ctr, NeuroGen Brain & Spine Inst, Dept NeuroRehabil, Bombay 400071, Maharashtra, India. RP Kulkarni, P (reprint author), Surana Sethia Hosp & Res Ctr, NeuroGen Brain & Spine Inst, Dept Res & Dev, Sion Trombay Rd, Bombay 400071, Maharashtra, India. 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TI Programmed Cell Death Is Impaired in the Developing Brain of Fmr1 Mutants SO DEVELOPMENTAL NEUROSCIENCE LA English DT Article DE Programmed cell death; Apoptosis; Brain; Development; Fragile X syndrome; Autism ID FRAGILE-X-SYNDROME; NERVOUS-SYSTEM; CYTOCHROME-C; MOUSE MODEL; MICE; APOPTOSIS; AUTISM; MITOCHONDRIA; PROTEIN; CORTEX AB Fragile X syndrome (FXS), due to transcriptional silencing of fragile X mental retardation protein (FMRP), is characterized by excess synaptic connections and impaired dendrite maturation. Programmed cell death (PCD) is critical for synaptogenesis and elimination of aberrant neuronal connections in the developing brain; however, the role of FMRP in PCD is unknown. The aim of this work was to assess the intrinsic apoptosis pathway in the developing brain of Fmr1 mutants. To accomplish this, we evaluated two different Fmr1 mutant strains of 10-day-old male mice compared with appropriate controls. We performed immunohistochemistry for activated caspase-3 and TUNEL assays, quantified the number of neurons in neocortex and hippocampus, determined cytochrome c peroxidase activity, measured the amount of cytochrome c release from forebrain mitochondria, and assessed levels of key pro- and antiapoptotic mediators with immunoblot analysis. Both Fmr1 mutant strains demonstrated decreased apoptosis in neocortex, hippocampus, and basolateral amygdala, impaired cytochrome c and procaspase-9 release from mitochondria despite intact Bax translocation, increased expression of the antiapoptotic protein, BCL-xL, and increased number of neurons. Taken together, the data suggest that PCD is impaired due to increased BCL-xL expression and is associated with excess neurons in the developing brain of FMRP-deficient mice. It is possible that deficient PCD prevents neuron elimination and results in abnormal retention of developmentally transient neurons. Thus, defective PCD may contribute to the excess synaptic connections known to exist in Fmr1 mutants and could play a role in the behavioral phenotype of children with FXS. Copyright (C) 2013 S. Karger AG, Basel C1 [Cheng, Ying; Levy, Richard J.] George Washington Univ, Sch Med & Hlth Sci, Div Anesthesiol & Pain Med, Childrens Natl Med Ctr, Washington, DC 20052 USA. [Corbin, Joshua G.] Childrens Natl Med Ctr, Ctr Neurosci Res, Childrens Res Inst, Washington, DC 20010 USA. RP Levy, RJ (reprint author), Childrens Natl Med Ctr, Div Anesthesiol & Pain Med, 111 Michigan Ave NW, Washington, DC 20010 USA. 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Neurosci. PY 2013 VL 35 IS 4 BP 347 EP 358 DI 10.1159/000353248 PG 12 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 210TH UT WOS:000323857000007 PM 23900139 ER PT J AU Voineagu, I Yoo, HJ AF Voineagu, Irina Yoo, Hee Jeong TI Current Progress and Challenges in the Search for Autism Biomarkers SO DISEASE MARKERS LA English DT Review ID DE-NOVO MUTATIONS; EARLY BEHAVIORAL INTERVENTION; SPECTRUM DISORDERS; GENE-EXPRESSION; OXIDATIVE STRESS; YOUNG-CHILDREN; MITOCHONDRIAL DYSFUNCTION; CHROMOSOMAL MICROARRAY; MICROGLIAL ACTIVATION; PSYCHIATRIC-DISORDERS AB Autism spectrum disorders (ASD) encompass a range of neurodevelopmental conditions that are clinically and etiologically very heterogeneous. ASD is currently diagnosed entirely on behavioral criteria, but intensive research efforts are focused on identifying biological markers for disease risk and early diagnosis. Here, we discuss recent progress toward identifying biological markers for ASD and highlight specific challenges as well as ethical aspects of translating ASD biomarker research into the clinic. C1 [Voineagu, Irina] Univ New S Wales, Sch Biotechnol & Biomol Sci, Sydney, NSW 2052, Australia. [Yoo, Hee Jeong] Seoul Natl Univ, Dept Psychiat, Bundang Hosp, Gyeonggi 441701, South Korea. RP Yoo, HJ (reprint author), Seoul Natl Univ, Dept Psychiat, Bundang Hosp, Gyeonggi 441701, South Korea. EM hjyoo@snu.ac.kr FU NARSAD; Japanese Society for Promotion of Science; Ministry of Health and Welfare, Republic of Korea [A120029] FX This work was supported by a NARSAD Young Investigator Award (I. Voineagu), a grant-in-aid from the Japanese Society for Promotion of Science (I. Voineagu), and a Korea Healthcare Technology R&D Project (A120029) from the Ministry of Health and Welfare, Republic of Korea (H. J. Yoo). 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Med. PY 2013 VL 8 AR 21725 DI 10.3402/ljm.v8i0.21725 PG 2 WC Medicine, General & Internal SC General & Internal Medicine GA 208SM UT WOS:000323699800001 PM 23962635 ER PT J AU Pino-Lopez, M Romero-Ayuso, DM AF Pino-Lopez, Manuel Romero-Ayuso, Dulce M. TI Autism Spectrum Disorders and Parental Occupational Exposures SO REVISTA ESPANOLA DE SALUD PUBLICA LA Spanish DT Article DE Environment; Autism; Electromagnetic Fields; Occupational Exposure; Genetics; Early Intervention; Solvents; Night Work ID BREAST-CANCER; ELECTROMAGNETIC-RADIATION; ORGANIC-SOLVENTS; UNITED-STATES; RISK; CHILDREN; CELLS; NIGHT; MECHANISMS; TOXICITY AB Background: Studies of siblings and twins suggest a genetic component of autism that does not fully explain its current increase. The aim is to investigate whether environmental factors such as exposure to occupational hazards (night work, handling of solvents and/or electromagnetic fields) increases the likelihood of autism spectrum disorders (ASD) in children. Methods: Observational case control study by analyzing the records of 206 children (age between 16 and 36 months) evaluated in the Early Intervention Service of Ciudad Real (70 with ASD and 136 unaffected children). To assess the risk of ASD associated with night work, handling of solvents and/or electromagnetic fields, odds ratio (OR) were calculated with 95% confidence intervals (CI). Results: The risk of ASD is multiplied by 2.22 when one parent works in the studied occupations (OR=2.22, 95% CI=1.42-3.48), high-lighting work with solvents (OR=2.81, 95% CI=1.28-6.17) and night work (OR=2.18, 95% CI=1.21-3.93). It is multiplied by 3 if the mother's job is one of these occupations (OR=3, 95% CI=1.44-6.26), standing out night work (OR=3.47, 95% CI=1.39-8.63), and handling of solvents (OR=2.88, 95% CI=1.28-6.17); whereas it is multiplied by 1.94 if the father works in these occupations (OR=1.94, 95% CI=1.07-3.53), standing out handling of solvents (OR=2.81, 95% CI=1.01-7.86). A positive association between the educational level of parents and ASD is found. Conclusions: The results show a significant relationship between the exposure of the parents to occupational hazards and ASD in the children, suggesting the involvement of genetic alterations caused by environmental factors in the origin of the disorder. C1 [Pino-Lopez, Manuel] Consejeria Sanidad & Asuntos Sociales Junta Comun, Ctr Base Atenc Personas Con Discapacidad Ciudad R, Ciudad Real, Spain. [Romero-Ayuso, Dulce M.] Univ Castilla La Mancha, Fac Terapia Ocupac Logopedia & Enfermeria, Dept Psicol, E-13071 Ciudad Real, Spain. RP Pino-Lopez, M (reprint author), C Zancara 27, Ciudad Real 13002, Spain. 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PY 2013 VL 14 IS 4 AR 204 DI 10.1186/gb-2013-14-4-204 PG 12 WC Biotechnology & Applied Microbiology; Genetics & Heredity SC Biotechnology & Applied Microbiology; Genetics & Heredity GA 192XN UT WOS:000322521300015 PM 23597266 ER PT J AU Dickerson, P Robins, B Dautenhahn, K AF Dickerson, Paul Robins, Ben Dautenhahn, Kerstin TI Where the action is A conversation analytic perspective on interaction between a humanoid robot, a co-present adult and a child with an ASD SO INTERACTION STUDIES LA English DT Article DE autism; assessment; autistic spectrum disorder; experiment; conversation analysis; interaction; humanoid robot; sequences; sequence of interaction; socio-emotional reciprocity ID ASPERGER-SYNDROME; AUTISM; SPECTRUM; RECOGNITION; ATTENTION; TASK; MIND AB This paper examines interaction involving a child with an Autistic Spectrum Disorder, a humanoid robot and a co-present adult. In this paper data from one child (collected as part of the ROBOSKIN project) is analysed in order to evaluate the potential contributions of a conversation analytic perspective to the examination of data relating to socio-emotional reciprocity. The paper argues for the value of treating all interaction as potentially relevant, looking without carefully pre-defined target behaviours and examining behaviour within its specific sequence of interaction. Adopting this approach, the paper suggests, enables noticings and observations that might not be available from perspectives that rely on the coding of pre-specified behaviours in isolation. Treating all interaction as potentially relevant brought into view interactions that might otherwise be dismissed or ignored - because they occurred before, or after, the trial itself. Being informed by the value of unmotivated looking - rather than pre-specified coding schemes - enabled highly relevant behaviour that was not anticipated within the trials to be analysed. Finally, seeing sequence as important meant that behaviours were appreciated in their intricate detail, enabling a more precise understanding than might be available if they were considered separately from that sequential environment. C1 [Dickerson, Paul] Univ Roehampton, Whitelands Coll, Dept Psychol, London SW14 4JD, England. [Robins, Ben; Dautenhahn, Kerstin] Univ Hertfordshire, Sch Comp Sci, Adapt Syst Res Grp, Hatfield AL10 9AB, Herts, England. RP Dickerson, P (reprint author), Univ Roehampton, Whitelands Coll, Dept Psychol, Holybourne Ave, London SW14 4JD, England. 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Stud. PY 2013 VL 14 IS 2 BP 297 EP 316 DI 10.1075/is.14.2.07dic PG 20 WC Communication; Linguistics SC Communication; Linguistics GA 190UL UT WOS:000322366500008 ER PT J AU Tabuchi, K Chang, WH Nur Farehan, AM Thomas, SC Shigemoto, R AF Tabuchi, Katsuhiko Chang Wen Hsin Nur Farehan, Asgar Mohamed Thomas, Sudhof C. Shigemoto, Ryuichi TI Synapse maturation and autism : The role of synapse adhesion molecules SO JOURNAL OF PHYSIOLOGICAL SCIENCES LA English DT Meeting Abstract C1 [Tabuchi, Katsuhiko] Shinshu Univ, Sch Med, Dept Neurophysiol, Matsumoto, Nagano 390, Japan. [Tabuchi, Katsuhiko] PRESTO JST, Okazaki, Aichi, Japan. [Tabuchi, Katsuhiko; Chang Wen Hsin; Nur Farehan, Asgar Mohamed; Shigemoto, Ryuichi] Natl Inst Physiol Sci, Okazaki, Aichi 444, Japan. [Shigemoto, Ryuichi] Stanford Univ, Sch Med, Stanford, CA 94305 USA. NR 0 TC 0 Z9 0 PU SPRINGER JAPAN KK PI TOKYO PA CHIYODA FIRST BLDG EAST, 3-8-1 NISHI-KANDA, CHIYODA-KU, TOKYO, 101-0065, JAPAN SN 1880-6546 J9 J PHYSIOL SCI JI J. Physiol. Sci. PY 2013 VL 63 SU 1 BP S29 EP S29 PG 1 WC Physiology SC Physiology GA 190PH UT WOS:000322352200048 ER PT J AU Plumb, AM Plexico, LW AF Plumb, Allison M. Plexico, Laura W. TI Autism Spectrum Disorders: Experience, Training, and Confidence Levels of School-Based Speech-Language Pathologists SO LANGUAGE SPEECH AND HEARING SERVICES IN SCHOOLS LA English DT Article DE autism; school-based services; education; scholarship of teaching and learning ID KNOWLEDGE AB Purpose: To investigate the graduate training experiences of school-based speech-language pathologists (SLPs) working with children with autism spectrum disorders (ASDs). Comparisons were made between recent graduates (post 2006) and pre-2006 graduates to determine if differences existed in their academic and clinical experiences or their confidence in working with children with ASDs. Method: A 46-item, web-based, national survey was used. Participants were recruited through e-mail and listservs for American Speech-Language-Hearing Association Special Interest Divisions 1 (Language, Learning, and Education) and 16 (School-Based Issues). Results: Recent graduates reported a greater amount of graduate coursework relating to ASDs than pre-2006 graduates. However, the pre-2006 graduates reported significantly greater confidence in the areas of counseling parents of children who exhibit "red flags" of ASDs and addressing social communication, literacy, and academics in intervention. Conclusion: Results of the current survey indicated an increase in the amount of preprofessional training that SLPs receive relating to ASDs. Nonetheless, the majority of SLPs reported that they could have benefitted from additional clinical experience and training working with children with ASDs. 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Serv. Sch. PD JAN 1 PY 2013 VL 44 IS 1 BP 89 EP 104 DI 10.1044/0161-1461(2012/11-0105) PG 16 WC Linguistics; Rehabilitation SC Linguistics; Rehabilitation GA 190TK UT WOS:000322362900008 PM 23087159 ER PT J AU Wilson, KP AF Wilson, Kaitlyn P. TI Incorporating Video Modeling Into a School-Based Intervention for Students With Autism Spectrum Disorders SO LANGUAGE SPEECH AND HEARING SERVICES IN SCHOOLS LA English DT Article DE video modeling; video self-modeling; autism spectrum disorder; school-based; speech-language pathology ID OF-THE-LITERATURE; CHILDREN; SELF; SKILLS; PLAY; PRESCHOOLERS; METAANALYSIS; INDIVIDUALS; INSTRUCTION; SETTINGS AB Purpose: Video modeling is an intervention strategy that has been shown to be effective in improving the social and communication skills of students with autism spectrum disorders, or ASDs. The purpose of this tutorial is to outline empirically supported, step-by-step instructions for the use of video modeling by school-based speech-language pathologists (SLPs) serving students with ASD. Method: This tutorial draws from the many reviews and meta-analyses of the video modeling literature that have been conducted over the past decade, presenting empirically supported considerations for school-based SLPs who are planning to incorporate video modeling into their service delivery for students with ASD. The 5 overarching procedural phases presented in this tutorial are (a) preparation, (b) recording of the video model, (c) implementation of the video modeling intervention, (d) monitoring of the student's response to the intervention, and (e) planning of the next steps. Conclusion: Video modeling is not only a promising intervention strategy for students with ASD, but it is also a practical and efficient tool that is well-suited to the school setting. 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Rodriguez, Sonia Dieguez-Risco, Teresa Romero-Ferreiro, Veronica Fernandez-Cahill, Maria TI Learning of Facial Responses to Faces Associated with Positive or Negative Emotional Expressions SO SPANISH JOURNAL OF PSYCHOLOGY LA English DT Article DE associative learning; facial expressions of emotion; happy faces; angry faces; EMG ID MIMICRY REACTIONS; INDIVIDUAL-DIFFERENCES; INFORMATION; STIMULI; EMPATHY; AUTISM; EMG AB The possibility that facial expressions of emotion change the affective valence of faces through associative learning was explored using facial electromyography (EMG). In Experiment 1, EMG activity was registered while the participants (N = 57) viewed sequences of neutral faces (Stimulus 1 or S1) changing to either a happy or an angry expression (Stimulus 2 or S2). As a consequence of learning, participants who showed patterning of facial responses in the presence of angry and happy faces, that is, higher Corrugator Supercilii (CS) activity in the presence of angry faces and higher Zygomaticus Major (ZM) activity in the presence of happy faces, showed also a similar pattern when viewing the corresponding S1 faces. Explicit evaluations made by an independent sample of participants (Experiment 2) showed that evaluation of S1 faces was changed according to the emotional expression with which they had been associated. These results are consistent with an interpretation of rapid facial reactions to faces as affective responses that reflect the valence of the stimulus and that are sensitive to learned changes in the affective meaning of faces. C1 [Aguado, Luis; Rodriguez, Sonia; Dieguez-Risco, Teresa; Romero-Ferreiro, Veronica; Fernandez-Cahill, Maria] Univ Complutense, Madrid, Spain. [Roman, Francisco J.] Univ Autonoma Madrid, E-28049 Madrid, Spain. RP Aguado, L (reprint author), Fac Psicol, Campus Somosaguas, Madrid 28223, Spain. 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Genetic, molecular, and cytologic research highlights a variety of shared contributory mechanisms that may lead to patterns of abnormal connectivity arising from altered development and topology. Overt behavioral pathology likely emerges during or after neurosensitive periods in which resource demands overwhelm system resources and the individual's ability to compensate using interregional activation fails. We are at the threshold of being able to chart autism and schizophrenia from the inside out. In so doing, the door is opened to the consideration of new therapeutics that are developed based upon molecular, synaptic, and systems targets common to both disorders. C1 [de Lacy, Nina] Univ Washington, Seattle, WA 98195 USA. Seattle Childrens Hosp, Seattle, WA 98195 USA. RP de Lacy, N (reprint author), Univ Washington, Seattle, WA 98195 USA. 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Two middle school-aged participants with high-functioning autism spectrum disorders were taught to self-monitor behaviors impacting their social acceptance by peers in their general education settings: oral self-stimulatory behaviors and conversation skills. Results indicate that the intervention was effective to some degree with both participants. As a result of the self-monitoring intervention, one participant decreased self-stimulatory behaviors; however, his data were highly variable throughout the study though lower on average during intervention than in baseline. The other participant's targeted skills in communication were only slightly improved. Self-monitoring using a vibrating reminder appears to be a low-cost intervention with high levels of social acceptability, low training requirements for teachers or students, and no social stigma. C1 [Ganz, Jennifer B.; Heath, Amy K.; Davis, John L.; Vannest, Kimberley J.] Texas A&M Univ, College Stn, TX 77843 USA. 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PY 2013 VL 44 BP 1 EP 35 DI 10.1016/B978-0-12-401662-0.00001-4 PG 35 WC Education, Special; Psychology, Multidisciplinary SC Education & Educational Research; Psychology GA BFQ02 UT WOS:000320926000002 ER PT J AU Devine, DP Symons, FJ AF Devine, Darragh P. Symons, Frank J. BE Hastings, RP Rojahn, J TI Biological Vulnerability and Risk for Self-Injury in Intellectual and Developmental Disabilities SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES: CHALLENGING BEHAVIOR, VOL 44 SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID SEPARATION ANXIETY SYNDROME; PRADER-WILLI-SYNDROME; LESCH-NYHAN-SYNDROME; FRAGILE-X-SYNDROME; RHESUS-MONKEYS; NEURODEVELOPMENTAL DISORDERS; RETARDED-CHILDREN; YOUNG-CHILDREN; CHALLENGING BEHAVIORS; FUNCTIONAL-ANALYSIS AB A broad spectrum of individuals with intellectual and developmental disabilities (I/DD) exhibit self-directed behavior that has the capacity to produce tissue injury. Different forms of self-injury (e.g. self-biting, self-hitting, head-banging) may partially segregate in specific neurodevelopmental disorders, although there is also significant overlap. For example, individuals with Prader-Willi syndrome typically pick at their skin, whereas those with Lesch-Nyhan syndrome bite themselves, while individuals with autism exhibit an array of self-injurious behaviors (self-hitting, self-biting, head-banging). Many individuals have "preferred" forms and target locations, and their self-injurious acts can be highly repetitive and stereotyped. Such structural characteristics can differ substantially between individuals even when they have the same genetic syndrome or type of neurodevelopmental disorder. Furthermore, self-injurious behavior (SIB) emerges in a variety of environmental contexts, and may be closely associated with impoverished institutional environments and/or emotional distress, suggesting that these may be common establishing conditions. It is worth noting that SIB is also seen in animals under a variety of circumstances, including laboratory models, domestic pets, and animals kept in zoos or farms. Thus, the etiology and expression of SIB is not unique to humans. Overall, these observations raise a variety of questions about the etiology and expression of self-injury. Do the various forms of self-injury represent the same or different phenomena across the different groups? Are there common underlying mechanisms, or does each pattern of SIB represent a distinct form of predisposing neuropathology? Because self-injury is prevalent across disparate diagnostic groups, is there reason to believe that perturbation of common biological mechanisms make it more likely that SIB will emerge? This question could be restated to ask whether risk factors (which seem to vary widely at the phenomenological level) are mediated through some common pathophysiological mechanism(s) such that biological vulnerabilities-regardless of diagnostic differences-can be identified to estimate developmental risk for SIB. The ultimate goal of a developmental account is to promote prevention in the form of risk reduction. Our specific purpose in writing this chapter is to selectively review the research evidence for "risk factors" that promote vulnerability for SIB specific to I/DD, and then suggest that our current approach to understanding SIB risk has been limited by relying for too long on conventional prevalence ratio study designs. We argue that adopting approaches informed from bench studies of risk factors may help move us forward faster in understanding which individuals with I/DD are likely to develop SIB and the circumstances under which it will most likely occur. 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PY 2013 VL 44 BP 37 EP 67 DI 10.1016/B978-0-12-401662-0.00002-6 PG 31 WC Education, Special; Psychology, Multidisciplinary SC Education & Educational Research; Psychology GA BFQ02 UT WOS:000320926000003 ER PT J AU Oliver, C Adams, D Allen, D Bull, L Heald, M Moss, J Wilde, L Woodcock, K AF Oliver, Chris Adams, Dawn Allen, Debbie Bull, Leah Heald, Mary Moss, Jo Wilde, Lucy Woodcock, Kate BE Hastings, RP Rojahn, J TI Causal Models of Clinically Significant Behaviors in Angelman, Cornelia de Lange, Prader-Willi and Smith-Magenis Syndromes SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES: CHALLENGING BEHAVIOR, VOL 44 SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID SELF-INJURIOUS-BEHAVIOR; BRACHMANN-DELANGE SYNDROME; SYNDROME DEL 17P11.2; DU-CHAT-SYNDROMES; GENOTYPE-PHENOTYPE CORRELATIONS; AUTISM SPECTRUM DISORDERS; FRAGILE-X-SYNDROME; COMPULSIVE BEHAVIOR; ENVIRONMENTAL EVENTS; GENETIC SUBTYPES AB The operant learning theory account of behaviors of clinical significance in people with intellectual disability (ID) has dominated the field for nearly 50 years. However, in the last two decades, there has been a substantial increase in published research that describes the behavioral phenotypes of genetic disorders and shows that behaviors such as self-injury and aggression are more common in some syndromes than might be expected given group characteristics. These cross-syndrome differences in prevalence warrant explanation, not least because this observation challenges an exclusively operant learning theory account. To explore this possible conflict between theoretical account and empirical observation, we describe the genetic cause and physical, social, cognitive and behavioral phenotypes of four disorders associated with ID (Angleman, Cornelia de Lange, Prader-Willi and Smith-Magenis syndromes) and focus on the behaviors of clinical significance in each syndrome. For each syndrome we then describe a model of the interactions between physical characteristics, cognitive and motivational endophenotypes and environmental factors (including operant reinforcement) to account for the resultant behavioral phenotype. In each syndrome it is possible to identify pathways from gene to physical phenotype to cognitive or motivational endophenotype to behavior to environment and back to behavior. We identify the implications of these models for responsive and early intervention and the challenges for research in this area. We identify a pressing need for meaningful dialog between different disciplines to construct better informed models that can incorporate all relevant and robust empirical evidence. C1 [Oliver, Chris; Adams, Dawn; Allen, Debbie; Bull, Leah; Heald, Mary; Moss, Jo; Wilde, Lucy; Woodcock, Kate] Univ Birmingham, Sch Psychol, Cerebra Ctr Neurodev Disorders, Birmingham B15 2TT, W Midlands, England. [Moss, Jo] UCL, Inst Cognit Neurosci, London, England. [Woodcock, Kate] Peking Univ, Culture & Social Cognit Neurosci Lab, Dept Psychol, Beijing 100871, Peoples R China. RP Oliver, C (reprint author), Univ Birmingham, Sch Psychol, Cerebra Ctr Neurodev Disorders, Birmingham B15 2TT, W Midlands, England. 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Rev. Res. Dev. Disabil. PY 2013 VL 44 BP 167 EP 211 DI 10.1016/B978-0-12-401662-0.00006-3 PG 45 WC Education, Special; Psychology, Multidisciplinary SC Education & Educational Research; Psychology GA BFQ02 UT WOS:000320926000007 ER PT J AU McIntyre, LL AF McIntyre, Laura Lee BE Hastings, RP Rojahn, J TI Parent Training Interventions to Reduce Challenging Behavior in Children with Intellectual and Developmental Disabilities SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES: CHALLENGING BEHAVIOR, VOL 44 SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID RANDOMIZED CONTROLLED-TRIAL; YOUNG-CHILDREN; CONDUCT PROBLEMS; MENTAL-HEALTH; DECREASES AGGRESSION; ANTISOCIAL-BEHAVIOR; AUTISM SPECTRUM; SUPPORT PROGRAM; MUSIC-THERAPY; SCHOOL-AGE AB It is well established that parents and other caregivers play an important role in shaping child development. Given the important link between parenting and child adjustment, a variety of parent management training interventions have been adopted from the disruptive behavior disorder treatment literature and applied to the prevention and treatment of challenging behavior in children with intellectual and developmental - disabilities (IDD). This chapter reviews empirical studies published from 2003 to 2012 that examine the effects of parent training interventions on challenging behavior of children with IDD. Nineteen studies representing 11 parent training programs are reviewed. Parent training interventions include the Incredible Years, Stepping Stones Triple P, Signposts for Building Better Behavior, Research Units in Pediatric Psychopharmacology Parent Training, Sing and Grow Music Therapy, Mindfulness Training, Parent-Child Interaction Therapy, the Autism Spectrum Conditions-Enhancing Nurture and Development program, Parent Training for Smaller Groups and Shorter Schedules, video modeling and feedback parent training, and parent management training. Taken together, results from these studies suggest a growing evidence base for the use of parent training interventions for reducing challenging behavior in children with IDD. Results suggest a smaller body of evidence for effects of parent training interventions on altering parenting behavior and enhancing parent mental health. 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PY 2013 VL 44 BP 245 EP 279 DI 10.1016/B978-0-12-401662-0.00008-7 PG 35 WC Education, Special; Psychology, Multidisciplinary SC Education & Educational Research; Psychology GA BFQ02 UT WOS:000320926000009 ER PT J AU Farmer, CA Aman, MG AF Farmer, Cristan A. Aman, Michael G. BE Hastings, RP Rojahn, J TI Pharmacological Intervention for Disruptive Behaviors in Intellectual and Developmental Disabilities: The Glass is Half Full SO INTERNATIONAL REVIEW OF RESEARCH IN DEVELOPMENTAL DISABILITIES: CHALLENGING BEHAVIOR, VOL 44 SE International Review of Research in Developmental Disabilities LA English DT Article; Book Chapter ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; AUTISM SPECTRUM DISORDERS; PSYCHOTROPIC MEDICATION USE; OPEN-LABEL TRIAL; SELF-INJURIOUS-BEHAVIOR; PRADER-WILLI-SYNDROME; MENTAL-RETARDATION; DOUBLE-BLIND; RETROSPECTIVE ASSESSMENT; SUBAVERAGE INTELLIGENCE AB The use of psychotropic medicine for the treatment of disruptive behaviors such as irritability, attention-deficit hyperactivity disorder symptoms, and self-injury is more common in individuals with intellectual and developmental disabilities (IDD) than in neurotypical populations. With the exception of some atypical antipsychotics, few drugs carry clinical indications for such use. Thus, many children and adults with IDD receive "off-label" medication with varying degrees of empirical support for safety and efficacy. In this chapter, we review the literature on pharmacologic treatment of disruptive behavior in IDD between 2001 and 2010. We discuss several drug classes, including antipsychotics, antidepressants, psychostimulants, norepinephrine reuptake inhibitors, anticonvulsants, and glutamatergic agents. Due to the relative preponderance of research in samples with autism spectrum disorders, we present these separately from studies in general IDD samples. Overall, the research base is strongest for atypical antipsychotics and psychostimulants, and it is clear that the field has advanced between 2001 and 2010. Other drug classes have received relatively little research attention. We identify several areas in which the field can improve future research, including the study of combination treatments (e.g. cotherapy and medication plus behavioral). 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SO STUDIA PSYCHOLOGICA LA English DT Article DE mindreading; general cognitive abilities; verbal abilities; preadolescents ID MIND; CHILDREN; AUTISM AB Research concerning mindreading has dealt extensively with its (in)dependence on executive functions. However, surprisingly few studies focused on direct relationship of mindreading with intelligence, although it has been proposed that high level mindreading in older children and adults is dependent on general cognitive skills. In the study reported here, two advanced mindreading tests were employed and data about participants' verbal abilities were obtained. There was no significant correlation of verbal ability and memory with any of the mindreading tasks. Our results demonstrate a lack of significant linear relationship of mindreading with the intelligence domains, language and memory as well as support the argument that mindreading exists as a specific independent cognitive domain. C1 [Cavojova, Vladimira; Ballova Mikuskova, Eva; Hanak, Robert] Slovak Acad Sci, Inst Expt Psychol, Bratislava 81364, Slovakia. RP Cavojova, V (reprint author), Slovak Acad Sci, Inst Expt Psychol, Dubravska Cesta 9, Bratislava 81364, Slovakia. EM vladimira.cavojova@savba.sk CR Apperly I, 2011, MINDREADERS: THE COGNITIVE BASIS OF THEORY OF MIND, P1 BALLOVA MIKUSKOVA E., STUDIA PSYC IN PRESS Buitelaar JK, 1999, J CHILD PSYCHOL PSYC, V40, P869, DOI 10.1017/S0021963099004321 Doherty M. 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PY 2013 VL 55 IS 1 BP 61 EP 66 PG 6 WC Psychology, Multidisciplinary SC Psychology GA 183EO UT WOS:000321797300005 ER PT J AU Kaluzna-Czaplinska, J Zurawicz, E Michalska, M Rynkowski, J AF Kaluzna-Czaplinska, Joanna Zurawicz, Ewa Michalska, Monika Rynkowski, Jacek TI A focus on homocysteine in autism SO ACTA BIOCHIMICA POLONICA LA English DT Review DE autism; homocysteine; vitamins; nutritions; supplementation; metabolism ID METHYLENETETRAHYDROFOLATE REDUCTASE GENE; PLASMA HOMOCYSTEINE; CAPILLARY-ELECTROPHORESIS; ALZHEIMERS-DISEASE; SPECTRUM DISORDER; OXIDATIVE STRESS; FOLIC-ACID; FOLATE; CHILDREN; METABOLISM AB Homocysteine is an amino acid, which plays several important roles in human physiology. A wide range of disorders, including neuropsychiatric disorders and autism, are associated with increased homocysteine levels in biological fluids. Various B vitamins: B6 (pyridoxine), B12 (cobalamin), and B9 (folic acid) are required as co-factors by the enzymes involved in homocysteine metabolism. Therefore, monitoring of homocysteine levels in body fluids of autistic children can provide information on genetic and physiological diseases, improper lifestyle (including dietary habits), as well as a variety of pathological conditions. This review presents information on homocysteine metabolism, determination of homocysteine in biological fluids, and shows abnormalities in the levels of homocysteine in the body fluids of autistic children. C1 [Kaluzna-Czaplinska, Joanna; Zurawicz, Ewa; Michalska, Monika; Rynkowski, Jacek] Tech Univ Lodz, Dept Chem, Inst Gen & Ecol Chem, PL-90924 Lodz, Poland. RP Kaluzna-Czaplinska, J (reprint author), Tech Univ Lodz, Dept Chem, Inst Gen & Ecol Chem, PL-90924 Lodz, Poland. 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PY 2013 VL 60 IS 2 BP 137 EP 142 PG 6 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA 176OR UT WOS:000321314500001 PM 23741716 ER PT J AU Bjorklund, G AF Bjorklund, Geir TI The role of zinc and copper in autism spectrum disorders SO ACTA NEUROBIOLOGIAE EXPERIMENTALIS LA English DT Review DE Asperger syndrome; autism; pervasive developmental disorder; neurodevelopmental ID RECEPTOR SUBUNIT GENES; ENVIRONMENTAL MERCURY RELEASE; GLUTAMIC-ACID DECARBOXYLASE; DOPAMINE-BETA-HYDROXYLASE; HEAVY-METALS; ALZHEIMERS-DISEASE; DIABETES-MELLITUS; DEFICIENCY; BRAIN; GABA AB Autism spectrum disorders (ASDs) are a group of developmental disabilities that can cause significant social, communication and behavioral challenges. Several studies have suggested a disturbance in the copper (Cu) and zinc (Zn) metabolism in ASDs. Zinc deficiency, excess Cu levels, and low Zn/Cu ratio are common in children diagnosed with an ASD. The literature also suggests that mercury accumulation may occur as a cause or consequence of metallothionein (MT) dysfunction in children diagnosed with an ASD, which may be one of the causes of Zn deficiency. MTs are proteins with important functions in metal metabolism and protection. Zinc and Cu bind to and participate in the control of the synthesis of MT proteins. Studies indicate that the GABAergic system may be involved in ASDs, and that Zn and Cu may play a role in this system. C1 Council Nutr & Environm Med CONEM, Mo I Rana, Norway. RP Bjorklund, G (reprint author), Council Nutr & Environm Med CONEM, Mo I Rana, Norway. 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Exp. PY 2013 VL 73 IS 2 BP 225 EP 236 PG 12 WC Neurosciences SC Neurosciences & Neurology GA 182DB UT WOS:000321720800002 PM 23823984 ER PT J AU Mullen, BR Khialeeva, E Hoffman, DB Ghiani, CA Carpenter, EM AF Mullen, Brian R. Khialeeva, Elvira Hoffman, Daniel B. Ghiani, Cristina A. Carpenter, Ellen M. TI Decreased reelin expression and organophosphate pesticide exposure alters mouse behaviour and brain morphology SO ASN NEURO LA English DT Article DE autism; cerebellum; hippocampus; olfactory bulb; reeler; social interaction; ultrasonic communication ID AUTISM SPECTRUM DISORDERS; ULTRASONIC VOCALIZATIONS; EXTRACELLULAR-MATRIX; DEVELOPMENTAL NEUROTOXICITY; SIGNALING PATHWAY; DENDRITIC SPINE; MUTANT MOUSE; MICE; SCHIZOPHRENIA; METALLOPROTEINASE AB Genetic and environmental factors are both likely to contribute to neurodevelopmental disorders, including ASDs (autism spectrum disorders). In this study, we examined the combinatorial effect of two factors thought to be involved in autism - reduction in the expression of the extracellular matrix protein reelin and prenatal exposure to an organophosphate pesticide, CPO (chlorpyrifos oxon). Mice with reduced reelin expression or prenatal exposure to CPO exhibited subtle changes in ultrasound vocalization, open field behaviour, social interaction and repetitive behaviour. Paradoxically, mice exposed to both variables often exhibited a mitigation of abnormal behaviours, rather than increased behavioural abnormalities as expected. We identified specific differences in males and females in response to both of these variables. In addition to behavioural abnormalities, we identified anatomical alterations in the olfactory bulb, piriform cortex, hippocampus and cerebellum. As with our behavioural studies, anatomical alterations appeared to be ameliorated in the presence of both variables. While these observations support an interaction between loss of reelin expression and CPO exposure, our results suggest a complexity to this interaction beyond an additive effect of individual phenotypes. C1 [Mullen, Brian R.; Khialeeva, Elvira; Hoffman, Daniel B.; Ghiani, Cristina A.; Carpenter, Ellen M.] UCLA Sch Med, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA. RP Carpenter, EM (reprint author), UCLA Sch Med, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA. EM Ecarpenter@mednet.ucla.edu FU Autism Speaks!; National Institute of Child Health and Human Development [P50-HD055784] FX This work was supported by Autism Speaks! and pilot project funding from National Institute of Child Health and Human Development [grant number P50-HD055784 (to E.M.C.)]. 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Harcha, Paloma A. Saez, Juan C. TI Possible Involvement of TLRs and Hemichannels in Stress-Induced CNS Dysfunction via Mastocytes, and Glia Activation SO MEDIATORS OF INFLAMMATION LA English DT Review ID TOLL-LIKE RECEPTORS; CENTRAL-NERVOUS-SYSTEM; CORTICOTROPIN-RELEASING HORMONE; TUMOR-NECROSIS-FACTOR; HUMAN MAST-CELLS; GAP-JUNCTION CHANNELS; BLOOD-BRAIN-BARRIER; DOUBLE-STRANDED-RNA; MULTIPLE-SCLEROSIS LESIONS; AUTISM SPECTRUM DISORDERS AB In the central nervous system (CNS), mastocytes and glial cells (microglia, astrocytes and oligodendrocytes) function as sensors of neuroinflammatory conditions, responding to stress triggers or becoming sensitized to subsequent proinflammatory challenges. The corticotropin-releasing hormone and glucocorticoids are critical players in stress-induced mastocyte degranulation and potentiation of glial inflammatory responses, respectively. Mastocytes and glial cells express different toll-like receptor (TLR) family members, and their activation via proinflammatory molecules can increase the expression of connexin hemichannels and pannexin channels in glial cells. These membrane pores are oligohexamers of the corresponding protein subunits located in the cell surface. They allow ATP release and Ca2+ influx, which are two important elements of inflammation. Consequently, activated microglia and astrocytes release ATP and glutamate, affecting myelinization, neuronal development, and survival. Binding of ligands to TLRs induces a cascade of intracellular events leading to activation of several transcription factors that regulate the expression of many genes involved in inflammation. During pregnancy, the previous responses promoted by viral infections and other proinflammatory conditions are common and might predispose the offspring to develop psychiatric disorders and neurological diseases. Such disorders could eventually be potentiated by stress and might be part of the etiopathogenesis of CNS dysfunctions including autism spectrum disorders and schizophrenia. C1 [Aguirre, Adam; Maturana, Carola J.; Harcha, Paloma A.; Saez, Juan C.] Pontificia Univ Catolica Chile, Dept Fisiol, Santiago, Chile. [Aguirre, Adam; Maturana, Carola J.; Harcha, Paloma A.; Saez, Juan C.] Ctr Interdisciplinario Neurociencias Valparaiso, Inst Milenio, Valparaiso, Chile. RP Aguirre, A (reprint author), Pontificia Univ Catolica Chile, Dept Fisiol, Alameda 340, Santiago, Chile. EM aaguirred@uc.cl FU FONDECYT grants FONDECYT postdoctoral fellowship [3130632]; CONICYT Ph.D. student fellowship [21100401, 24121474, 1111033]; Anillo [ACT-71]; FONDEF [DO7I1086]; Chilean Science Millennium Institute [P09-022] FX This work was partially funded by FONDECYT grants FONDECYT postdoctoral fellowship 3130632 (to A. Aguirre), CONICYT Ph.D. student fellowship 21100401 (to C. J. Maturana) and 24121474 (to P. A. Harcha), and 1111033, Anillo ACT-71, FONDEF DO7I1086, and Chilean Science Millennium Institute P09-022 (to J. C. Saez). 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Inflamm. PY 2013 AR 893521 DI 10.1155/2013/893521 PG 17 WC Cell Biology; Immunology SC Cell Biology; Immunology GA 183ZC UT WOS:000321854900001 ER PT J AU Cassella, A AF Cassella, Antonio TI A Heuristic View of the Neurobiological Correlates of Classical and Quantum Neural Computing From the Perspective of Autistic Syndrome Disorders SO NEUROQUANTOLOGY LA English DT Article DE heuristic view; neurobiological correlates; quantum neural computing; autism ID CEREBELLUM; MIND AB Anomalies in the discourse of autistic individuals and in their performance in ambiguous situations suggest that quantum neural computing, or the second attention, is impaired in autism. When nonautistic individuals face a dilemma, quantum divergence-coherence a) suspends the legitimacy of relevant prototypical knowledge conserved through classical neural computing, or the first attention; b) launches the implicit self into opposite directions; and c) simulates the consequences of clashing variants in the working memory fed by cerebellar microcomplexes. Conversely, quantum convergence-decoherence selects a useful or amusing variant to reduce the consequences of blind trial-and-error in readjusting the knowledge stored in the long-term memory banks of the cerebral cortex. In this article, a view of the psychological roots of quantum coherence-decoherence, injuries detected in autopsied brains of infants and adults with autism, and the application of modern control theory to cerebellar-brainstem microcomplexes lead to a preliminary heuristics on the complementarity of classical and quantum computing in the nonautistic brain. C1 Merida State Inst Res Social Intelligence & Autis, Inst Merideno Invest Inteligencia Social & Autism, Estado Merida, Venezuela. RP Cassella, A (reprint author), Merida State Inst Res Social Intelligence & Autis, Inst Merideno Invest Inteligencia Social & Autism, 349 Zea, Estado Merida, Venezuela. 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Johnston, Susan TI Use of Social Stories to Improve Self-Regulation in Children with Autism Spectrum Disorders SO PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS LA English DT Article DE Autism spectrum disorders; functional behaviors; school-based practice; self-regulation; Social Stories ID OCCUPATIONAL-THERAPY; SENSORY INTEGRATION; SINGLE-SUBJECT; DIAGNOSIS; OUTCOMES AB A multiple baseline across participants design was used to evaluate the effects of Social Stories to help preschool-aged children with characteristics of Autism Spectrum Disorders (ASD) increase their engagement in functional behaviors and use sensory integrative-based strategies to promote self-regulation. Three children, 3-5 years old, from a self-contained preschool classroom were selected to participate in the study. The intervention package included reading individualized Social Stories that discussed desired behaviors and self-regulation strategies. 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TI Permeability of the hematoencephalic barrier in normalcy, brain development pathology and neurodegeneration SO ZHURNAL NEVROLOGII I PSIKHIATRII IMENI S S KORSAKOVA LA Russian DT Review DE hematoencephalic barrier; brain development pathology; neurodegeneration ID ASTROCYTE-ENDOTHELIAL INTERACTIONS; CENTRAL-NERVOUS-SYSTEM; CELLS; DISEASE; INFLAMMATION; AUTISM; TRANSPORT C1 [Kuvacheva, N. V.] Voyno Yasenetskiy Krasnoyarsk State Med Univ, Krasnoyarsk, Russia. Minist Hlth Russian Federat, Moscow, Russia. RP Kuvacheva, NV (reprint author), Voyno Yasenetskiy Krasnoyarsk State Med Univ, Krasnoyarsk, Russia. 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Chuang, De-Maw TI Mood stabilizer-regulated miRNAs in neuropsychiatric and neurodegenerative diseases: identifying associations and functions SO AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH LA English DT Article DE microRNA; neuroprotection; glutamate excitotoxicity; lithium; valproic acid; mood stabilizers ID SPORADIC ALZHEIMERS-DISEASE; AUTISM SPECTRUM DISORDERS; MICRORNA EXPRESSION; VALPROIC ACID; PREFRONTAL CORTEX; HUNTINGTONS-DISEASE; ALPHA-SYNUCLEIN; DOWN-REGULATION; RAT MODEL; LITHIUM AB Identifying mechanisms to enhance neuroprotection holds tremendous promise in developing new treatments for neuropsychiatric and neurodegenerative diseases. We sought to determine the potential role for microRNAs (miRNAs) in neuroprotection following neuronal death. A neuronal culture system of rat cerebellar granule cells was used to examine miRNA expression changes following glutamate-induced excitotoxicity and neuroprotective treatments. Combination treatment with the mood stabilizers lithium and valproic acid provided near-complete protection from glutamate excitotoxicity. Numerous miRNAs were detected by microarrays to be regulated by the combined lithium and valproic acid treatment, and the following candidates were confirmed using real-time PCR: miR-34a, miR-147b, miR-182, miR-222, miR-495, and miR-690. We then verified the apoptotic actions of miR-34a mimic in a human neuroblastoma cell line (SH-SY5Y) under basal conditions and following endoplasmic reticulum stress. To gain insight into the function of these mood stabilizer-regulated miRNAs, we performed two separate analyses: a candidate approach using Ingenuity Pathway Analysis that was restricted to only our PCR-verified miRNAs, and a global approach using DIANA-mirPath that included all significantly regulated miRNAs. It was observed that the pathways associated with mood stabilizer-regulated miRNAs in our study (global approach) are strongly associated with pathways implicated in neuropsychiatric diseases such as schizophrenia. We also observed an overlap in the mood stabilizer-regulated miRNAs identified from our study along with dysregulated miRNAs in both neuropsychiatric and neurodegenerative disorders. We anticipate that these associations and overlaps implicate critical pathways and miRNAs in disease mechanisms for novel therapeutic treatments that may hold potential for many neurological diseases. C1 [Hunsberger, Joshua G.; Fessler, Emily B.; Chibane, Fairouz L.; Leng, Yan; Chuang, De-Maw] NIMH, Mol Neurobiol Sect, NIH, Bethesda, MD 20892 USA. [Elkahloun, Abdel G.] NHGRI, NIH, Bethesda, MD USA. [Maric, Dragan] NINDS, NIH, Bethesda, MD 20892 USA. RP Chuang, DM (reprint author), NIMH, NIH, 10 Ctr Dr MSC 1363, Bethesda, MD 20892 USA. EM hunsbergerj@mail.nih.gov; chuang@mail.nih.gov FU NIMH, NIH FX We would like to acknowledge the support of the Intramural Research Program of the NIMH, NIH. We would also like to acknowledge the technical support kindly provided by Weiwei Wu for microRNA array processing, and the editorial suggestions by Peter Leeds. 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In fact, a coherent pattern of empirical findings points to beneficial effect of sleep on learning and plastic processes, and changes in synaptic plasticity during wakefulness induce coherent modifications in EEG slow wave cortical topography during subsequent sleep. However, the specific nature of the relation between sleep and synaptic plasticity is not clear yet. We reported findings in line with two models conflicting with respect to the underlying mechanisms, that is, the "synaptic homeostasis hypothesis" and the "consolidation" hypothesis, and some recent results that may reconcile them. Independently from the specific mechanisms involved, sleep loss is associated with detrimental effects on plastic processes at a molecular and electrophysiological level. Finally, we reviewed growing evidence supporting the notion that plasticity-dependent recovery could be improved managing sleep quality, while monitoring EEG during sleep may help to explain how specific rehabilitative paradigms work. We conclude that a better understanding of the sleep-plasticity link could be crucial from a rehabilitative point of view. C1 [Gorgoni, Maurizio; D'Atri, Aurora; Lauri, Giulia; Ferlazzo, Fabio; De Gennaro, Luigi] Univ Roma La Sapienza, Dept Psychol, I-00185 Rome, Italy. [Rossini, Paolo Maria] Univ Cattolica Sacro Cuore, Inst Neurol, I-00168 Rome, Italy. [Rossini, Paolo Maria; De Gennaro, Luigi] IRCCS San Raffaele Pisana, I-00163 Rome, Italy. [Ferlazzo, Fabio] IRCCS Fdn Santa Lucia, I-00179 Rome, Italy. RP De Gennaro, L (reprint author), Univ Roma La Sapienza, Dept Psychol, Piazzale Aldo Moro 5, I-00185 Rome, Italy. EM luigi.degennaro@uniroma1.it RI Rossini, Paolo /D-4994-2013 OI Rossini, Paolo /0000-0003-2665-534X FU "Finanziamenti per Progetti di Ricerca anno-"Sapienza" Universita di Roma" [C26A10AP8N] FX The authors are grateful for support from "Finanziamenti per Progetti di Ricerca anno 2010-"Sapienza" Universita di Roma" Project no. C26A10AP8N to Luigi De Gennaro. 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Plast. PY 2013 AR 103949 DI 10.1155/2013/103949 PG 13 WC Neurosciences SC Neurosciences & Neurology GA 169SX UT WOS:000320801700001 ER PT J AU Signorini, C De Felice, C Durand, T Oger, C Galano, JM Leoncini, S Pecorelli, A Valacchi, G Ciccoli, L Hayek, J AF Signorini, Cinzia De Felice, Claudio Durand, Thierry Oger, Camille Galano, Jean-Marie Leoncini, Silvia Pecorelli, Alessandra Valacchi, Giuseppe Ciccoli, Lucia Hayek, Joussef TI Isoprostanes and 4-Hydroxy-2-nonenal: Markers or Mediators of Disease? Focus on Rett Syndrome as a Model of Autism Spectrum Disorder SO OXIDATIVE MEDICINE AND CELLULAR LONGEVITY LA English DT Review ID MILD COGNITIVE IMPAIRMENT; THROMBOXANE A(2) RECEPTOR; OXIDATIVE STRESS; ALZHEIMERS-DISEASE; LIPID-PEROXIDATION; IN-VIVO; DOCOSAHEXAENOIC ACID; BRAIN PROTEINS; F-2-ISOPROSTANES; PRODUCTS AB Lipid peroxidation, a process known to induce oxidative damage to key cellular components, has been implicated in several diseases. Following three decades of explorations mainly on in vitro models reproducible in the laboratories, lipid peroxidation has become increasingly relevant for the interpretation of a wide range of pathophysiological mechanisms in the clinical setting. This cumulative effort has led to the identification of several lipid peroxidation end-products meeting the needs of the in vivo evaluation. Among these different molecules, isoprostanes and 4-hydroxy-2-nonenal protein adducts appear to be particularly interesting. This review shows how specific oxidation products, deriving from polyunsaturated fatty acids precursors, are strictly related to the clinical manifestations and the natural history of Rett syndrome, a genetically determined neurodevelopmental pathology, currently classified among the autism spectrum disorders. In our experience, Rett syndrome offers a unique setting for physicians, biologists, and chemists to explore the borders of the lipid mediators concept. 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TI Pain Sensitivity and Observer Perception of Pain in Individuals with Autistic Spectrum Disorder SO SCIENTIFIC WORLD JOURNAL LA English DT Review ID SELF-INJURIOUS-BEHAVIOR; HIGH-FUNCTIONING AUTISM; PERVASIVE DEVELOPMENTAL DISORDERS; INTELLECTUALLY DISABLED ADULTS; ASPERGER-SYNDROME; YOUNG-CHILDREN; CHALLENGING BEHAVIORS; INFANTILE-AUTISM; JUDGING PAIN; PDD-NOS AB The peer-reviewed literature investigating the relationship between pain expression and perception of pain in individuals with ASD is sparse. The aim of the present systematic PRIMSA review was twofold: first, to see what evidence there is for the widely held belief that individuals with ASD are insensitive to pain or have a high pain threshold in the peer-reviewed literature and, second, to examine whether individuals with ASD react or express pain differently. Fifteen studies investigating pain in individuals with ASD were identified. The case studies all reported pain insensitivity in individuals with ASD. However, the majority of the ten experimental studies reviewed indicate that the idea that individuals with ASD are pain insensitive needs to be challenged. The findings also highlight the strong possibility that not all children with ASD express their physical discomfort in the same way as a neurotypical child would (i.e., cry, moan, seek comfort, etc.) which may lead caregivers and the medical profession to interpret this as pain insensitivity or incorrectly lead them to believe that the child is in no pain. These results have important implications for the assessment and management of pain in children with ASD. C1 Univ Glasgow, Inst Hlth & Wellbeing, RHSC Yorkhill, Glasgow G3 8SJ, Lanark, Scotland. RP Allely, CS (reprint author), Univ Glasgow, Inst Hlth & Wellbeing, RHSC Yorkhill, Glasgow G3 8SJ, Lanark, Scotland. 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Related to its role in the development of forebrain circuitry, we recently identified a functional promoter variant of the MET gene that is associated with autism spectrum disorder (ASD). The association of the MET promoter variant rs1858830 C allele is significantly enriched in families with a child who has ASD and co-occurring gastrointestinal conditions. The expression of MET in the forebrain had been mapped in detail in the developing mouse and rhesus macaque. However, in mammals, its expression in the developing brainstem has not been studied extensively throughout developmental stages. Brainstem and autonomic circuitry are implicated in ASD pathophysiology and in gastrointestinal dysfunction. To advance our understanding of the neurodevelopmental influences of MET signaling in brainstem circuitry development, we employed in situ hybridization and immunohistochemistry to map the expression of Met and its ligand, Hgf, through prenatal development of the mouse midbrain and hindbrain. Our results reveal a highly selective expression pattern of Met in the brainstem, including a subpopulation of neurons in cranial motor nuclei (nVII, nA and nXII), B6 subgroup of the dorsal raphe, Barrington's nucleus, and a small subset of neurons in the nucleus of solitary tract. In contrast to Met, neither full-length nor known splice variants of Hgf were localized in the prenatal brainstem. RT-PCR revealed Hgf expression in target tissues of Met-expressing brainstem neurons, suggesting that MET in these neurons may be activated by HGF from peripheral sources. Together, these data suggest that MET signaling may influence the development of neurons that are involved in central regulation of gastrointestinal function, tongue movement, swallowing, speech, stress and mood. Copyright (c) 2013 S. Karger AG, Basel C1 [Wu, Hsiao-Huei; Levitt, Pat] Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, Dept Cell & Neurobiol, Los Angeles, CA 90033 USA. RP Levitt, P (reprint author), USC, Keck Sch Med, Zilkha Neurogenet Inst, 1501 San Pablo St, Los Angeles, CA 90089 USA. EM plevitt@med.usc.edu FU Zumberge individual awards; NIMH [MH067842]; Hearing Health Foundation FX We would like to thank Drs. Alexandre Bonnin and Kathie Eagleson (University of Southern California) and Linda Rinaman (University of Pittsburgh) for helpful discussions and comments on the manuscript. This work was supported by the Hearing Health Foundation (formally Deafness Research Foundation) research grant and Zumberge individual awards (H.-H. Wu), and NIMH grant MH067842 (P. Levitt). 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Neurosci. PY 2013 VL 35 IS 1 BP 1 EP 16 DI 10.1159/000346367 PG 16 WC Developmental Biology; Neurosciences SC Developmental Biology; Neurosciences & Neurology GA 167MW UT WOS:000320637100001 PM 23548689 ER PT J AU Brown, CA Kuo, M Phillips, L Berry, R Tan, M AF Brown, Cary A. Kuo, Melissa Phillips, Leah Berry, Robyn Tan, Maria TI Non-pharmacological sleep interventions for youth with chronic health conditions: A critical review of the methodological quality of the evidence SO DISABILITY AND REHABILITATION LA English DT Review DE Children; Critical Review; Intervention; Sleep; Youth ID RANDOMIZED CONTROLLED-TRIAL; DEFICIT HYPERACTIVITY DISORDER; CHALLENGING DAYTIME BEHAVIOR; SEVERE LEARNING-DISABILITIES; PUBLICATION BIAS; DEVELOPMENTAL-DISABILITIES; FUNCTIONAL ASSESSMENT; CLINICAL RESEARCH; SUBSTANCE-ABUSE; CHRONIC ILLNESS AB Purpose: Restorative sleep is clearly linked with well-being in youth with chronic health conditions. This review addresses the methodological quality of non-pharmacological sleep intervention (NPSI) research for youth with chronic health conditions. Method: The Guidelines for Critical Review (GCR) and the Effective Public Health Practice Project Quality Assessment Tool (EPHPP) were used in the review. Results: The search yielded 31 behavioural and 10 non-behavioural NPSI for review. Most studies had less than 10 participants. Autism spectrum disorders, attention deficit/hyperactivity disorders, down syndrome, intellectual disabilities, and visual impairments were the conditions that most studies focused upon. The global EPHPP scores indicated most reviewed studies were of weak quality. Only 7 studies were rated as moderate, none were strong. Studies rated as weak quality frequently had recruitment issues; non-blinded participants/parents and/or researchers; and used outcome measures without sound psychometric properties. Conclusions: Little conclusive evidence exists for NPSIs in this population. However, NPSIs are widely used and these preliminary studies demonstrate promising outcomes. There have not been any published reports of negative outcomes that would preclude application of the different NPSIs on a case-by-case basis guided by clinical judgement. These findings support the need for more rigorous, applied research. C1 [Brown, Cary A.; Kuo, Melissa; Berry, Robyn; Tan, Maria] Univ Alberta, Fac Rehabil Med, Dept Occupat Therapy, Edmonton, AB T6G 2G4, Canada. [Phillips, Leah] Concordia Univ, Coll Alberta, Fac Profess Educ, Dept Publ Hlth, Montreal, PQ, Canada. RP Brown, CA (reprint author), Univ Alberta, Fac Rehabil Med, Dept Occupat Therapy, Edmonton, AB T6G 2G4, Canada. 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Additionally, Gb is supposed to act as potential cognitive enhancer in dementia. So far, several trials have been conducted to investigate the potential effectiveness of Gb in neuropsychiatric conditions. However, the results of these studies remain controversial. We conducted a systematic review and a meta-analysis of three randomised controlled trials in patients with schizophrenia and eight randomised controlled trials in patients with dementia. Gb treatment reduced positive symptoms in patients with schizophrenia and improved cognitive function and activities of daily living in patients with dementia. No effect of Gb on negative symptoms in schizophrenic patients was found. The general lack of evidence prevents drawing conclusions regarding Gb effectiveness in other neuropsychiatric conditions (i.e., autism, depression, anxiety, attention-deficit hyperactivity disorder, and addiction). Our data support the use of Gb in patients with dementia and as an adjunctive therapy in schizophrenic patients. C1 [Brondino, Natascia; Re, Simona; Verna, Anna; Emanuele, Enzo; Politi, Pierluigi] Univ Pavia, Sect Psychiat, Dept Brain & Behav Sci, I-27100 Pavia, Italy. [De Silvestri, Annalisa] Fdn IRCCS Policlin San Matteo, Biometr & Stat Unit, I-27100 Pavia, Italy. [Lanati, Niccolo] Univ Pavia, Sect Psychiat, Dept Publ Hlth Neurosci Expt & Forens Med, I-27100 Pavia, Italy. [Thiemann, Pia] Ruhr Univ Bochum, Inst Psychol, D-44801 Bochum, Germany. RP Brondino, N (reprint author), Univ Pavia, Sect Psychiat, Dept Brain & Behav Sci, Via Bassi 21, I-27100 Pavia, Italy. 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Med. PY 2013 AR 915691 DI 10.1155/2013/915691 PG 11 WC Integrative & Complementary Medicine SC Integrative & Complementary Medicine GA 162BF UT WOS:000320238600001 ER PT J AU Caccia, S AF Caccia, Silvio TI Safety and Pharmacokinetics of Atypical Antipsychotics in Children and Adolescents SO PEDIATRIC DRUGS LA English DT Review ID CHILDHOOD-ONSET SCHIZOPHRENIA; BIPOLAR I DISORDER; PALIPERIDONE EXTENDED-RELEASE; ULTRARAPID CYP1A2 ACTIVITY; DOUBLE-BLIND; 2ND-GENERATION ANTIPSYCHOTICS; OPEN-LABEL; PSYCHIATRIC-DISORDERS; SCHIZOAFFECTIVE DISORDER; SERUM CONCENTRATIONS AB Pediatric behavioral and affective disorders often require antipsychotic therapy, in combination with psychotherapeutic interventions, for their treatment and stabilization. Although pharmacotherapy can include either typical or atypical antipsychotics, the latter are generally preferred because of their apparently lower risk of adverse effects. Recent controlled trials have demonstrated the efficacy of some of these agents (including aripiprazole, clozapine, olanzapine, paliperidone, quetiapine, risperidone, ziprasidone) in adolescent schizophrenia and children or adolescent bipolar mania, or to treat severe aggression and self-injury in the context of autism in children and adolescents. Although few studies have systematically monitored their short- and, more importantly, long-term safety, current evidence indicates that sedation, hyperprolactinemia, and metabolic abnormalities such as excess weight gain, diabetes, and related cardiovascular effects were clinically relevant adverse effects in young patients, with the individual agents differing in their propensity to induce these effects. When prescribing antipsychotics for children and adolescents, physicians should therefore be aware of the specific adverse effect profiles and patients should be closely monitored for the short- and long-term development of adverse events. In pediatric patients, the starting dose, titration plan, and maintenance dose of antipsychotics must be based on their pharmacokinetics and metabolism, as in adults. Because there are significant individual differences in drug and active metabolite(s) pharmacokinetics and metabolism, which may be further affected by a number of confounding factors (including demographic variables, phenotype and drug interactions), therapeutic drug monitoring may be a valid tool for individualizing dosage, but its interpretation should also take account of changes in pharmacodynamic sensitivity with the development during childhood and adolescence. C1 Ist Ric Farmacol IRCCS Mario Negri, I-20156 Milan, Italy. RP Caccia, S (reprint author), Ist Ric Farmacol IRCCS Mario Negri, Via Giuseppe La Masa 19, I-20156 Milan, Italy. 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Dadds, Mark R. Clifford, Colin W. G. TI Gaze categorization under uncertainty: Psychophysics and modeling SO JOURNAL OF VISION LA English DT Article DE gaze processing; another's gaze; eye contact; modeling ID EYE-GAZE; PERCEPTION; DIRECTION; LOOKING; AUTISM; ME; ATTENTION; CONTACT; SCHIZOPHRENIA; MECHANISMS AB The accurate perception of another person's gaze direction underlies most social interactions and provides important information about his or her future intentions. As a first step to measuring gaze perception, most experiments determine the range of gaze directions that observers judge as being direct: the cone of direct gaze. This measurement has revealed the flexibility of observers' perception of gaze and provides a useful benchmark against which to test clinical populations with abnormal gaze behavior. Here, we manipulated effective signal strength by adding noise to the eyes of synthetic face stimuli or removing face information. 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EM i.mareschal@qmul.ac.uk FU Australian Research Council [DP120102589]; Australian Research Council Future Fellowship; Medical Research Council, UK [MC_US_A060_5PQ50] FX This work is supported by Australian Research Council Discovery Project DP120102589 to C.W.G.C. and A.J.C. C.W.G.C. is supported by an Australian Research Council Future Fellowship. A.J.C. is supported by the Medical Research Council, UK (grant ref. MC_US_A060_5PQ50). 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H., 1824, PHILOS T ROY SOC LON, V114, P247, DOI DOI 10.1098/RSTL.1824.0016 NR 38 TC 3 Z9 3 PU ASSOC RESEARCH VISION OPHTHALMOLOGY INC PI ROCKVILLE PA 12300 TWINBROOK PARKWAY, ROCKVILLE, MD 20852-1606 USA SN 1534-7362 J9 J VISION JI J. Vision PY 2013 VL 13 IS 5 AR 18 DI 10.1167/13.5.18 PG 10 WC Ophthalmology SC Ophthalmology GA 156HR UT WOS:000319813200017 PM 23608340 ER PT J AU Liu, T Breslin, CM AF Liu, Ting Breslin, Casey M. TI The Effect of a Picture Activity Schedule on Performance of the MABC-2 for Children With Autism Spectrum Disorder SO RESEARCH QUARTERLY FOR EXERCISE AND SPORT LA English DT Article DE fine motor skills; gross motor skills; visual supports; youth ID ASPERGERS-SYNDROME; MOTOR AB Purpose: The purpose of this study was to examine the impact of an assessment protocol utilizing a picture activity schedule on the performance of the Movement Assessment Battery for Children-Second Edition (MABC-2) by children with autism spectrum disorder (ASD). Method: Twenty-five children (ages 3-16 years; 20 boys, 5 girls) performed the MABC-2 under two different protocols (i.e., traditional protocol and picture activity schedule protocol). In the traditional protocol condition, each child received detailed verbal descriptions and demonstrations prior to the motor skill performance. During the picture activity schedule protocol, a picture of each task was presented to the children and the verbal instructions were minimized to emphasize visual supports. MABC-2 percentile scores were analyzed using a within-subjects repeated-measures analysis of variance. Results: All children were delayed or at risk for delay in both fine and gross motor skill performance during the administration of the traditional protocol. However, when the picture activity schedule protocol was utilized, children showed a significantly higher MABC-2 percentile score (12.4) compared with that of the traditional protocol (1.1), F(1, 24) = 24.143, p < .001. Conclusions: The findings indicated that the picture activity schedule protocol may elicit better motor skill performance on the MABC-2 by children with ASD. We suggest researchers and practitioners incorporate a picture activity schedule into the MABC-2 assessment protocol when examining the fine and gross motor performance of children with ASD. C1 [Liu, Ting] Texas State Univ San Marcos, San Marcos, TX 78666 USA. [Breslin, Casey M.] Temple Univ, Philadelphia, PA 19122 USA. RP Liu, T (reprint author), Texas State Univ San Marcos, Dept Hlth & Human Performance, Coll Educ, 601 Univ Dr, San Marcos, TX 78666 USA. EM tingliu@txstate.edu CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Baranek G., 2005, HDB AUTISM PERVASIVE, P831 Bauer P. 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Sport PY 2013 VL 84 IS 2 BP 206 EP 212 DI 10.1080/02701367.2013.784725 PG 7 WC Hospitality, Leisure, Sport & Tourism; Psychology, Applied; Psychology; Sport Sciences SC Social Sciences - Other Topics; Psychology; Sport Sciences GA 152YS UT WOS:000319568900009 PM 23930546 ER PT J AU Hedvall, A Fernell, E Holm, A Johnels, JA Gillberg, C Billstedt, E AF Hedvall, Asa Fernell, Elisabeth Holm, Anette Johnels, Jakob Asberg Gillberg, Christopher Billstedt, Eva TI Autism, Processing Speed, and Adaptive Functioning in Preschool Children SO SCIENTIFIC WORLD JOURNAL LA English DT Article ID SPECTRUM DISORDERS; EXECUTIVE FUNCTION; COGNITIVE PROFILES; DYSFUNCTION; INDIVIDUALS; POPULATION; ATTENTION; DEFICITS; TASK; ADHD AB Objectives. To study cognitive test profiles with a focus on processing speed in a representative group of preschool children with autism spectrum disorder (ASD) and relate processing speed to adaptive functioning. Methods. Cognitive assessments were performed in 190 3.6-6.6-year-old children (164 boys and 26 girls) with ASD, using either Griffiths' developmental scales (n = 77) or the Wechsler Preschool and Primary Scale of Intelligence-Third Edition (WPPSI-III) (n = 113). Cognitive data were related to adaptive functioning as measured by Vineland Adaptive Behavior Scales (VABS). Results. Cognitive profiles were characterized by low verbal skills. Low processing speed quotients (PSQs) were found in 66 (78%) of the 85 children who were able to participate in the processing speed subtests. Except for Socialization, all VABS domains (Communication, Motor Skills, Daily Living Skills, and Adaptive Behavior Composite scores) correlated significantly with PSQ. Multiple regression analysis showed that PSQ predicted 38%, 35%, 34%, and 37% of the variance for Communication, Daily Living Skills, Motor Skills, and total Adaptive Composite scores, respectively. Conclusion. Preschool children with ASD had uneven cognitive profiles with low verbal skills, and, relatively, even lower PSQs. Except for Socialization, adaptive functioning was predicted to a considerable degree by PSQ. C1 [Hedvall, Asa; Fernell, Elisabeth; Johnels, Jakob Asberg; Gillberg, Christopher; Billstedt, Eva] Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, S-41119 Gothenburg, Sweden. [Hedvall, Asa; Holm, Anette] Astrid Lindgren Childrens Hosp, Dept Psychol, S-17176 Stockholm, Sweden. [Fernell, Elisabeth] Skaraborgss Hosp, Dept Pediat, Ctr Res & Dev, S-54185 Skovde, Sweden. [Fernell, Elisabeth] Skaraborgss Hosp, Unit Dev Disorders, S-54185 Skovde, Sweden. [Johnels, Jakob Asberg] Univ Gothenburg, Dept Psychol, S-40530 Gothenburg, Sweden. RP Hedvall, A (reprint author), Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, Kungsgatan 12, S-41119 Gothenburg, Sweden. EM asa.lundholm-hedvall@karolinska.se FU Gillberg Neuropsychiatry Centre; Wilhelm and Martina Lundgren Foundation; Department of Psychology at Karolinska University Hospital FX The authors are very grateful to all parents and children participating in the study and to personnel at the Autism Centre for Young Children. The project was financially supported by the Gillberg Neuropsychiatry Centre, the Wilhelm and Martina Lundgren Foundation, and the Department of Psychology at Karolinska University Hospital. CR Alin-Akerman B., 1991, GRIFFITHS DEV SCALES American Psychiatric Association (APA), 1994, DIAGN STAT MAN MENT, V4th Assouline SG, 2012, J AUTISM DEV DISORD, V42, P1781, DOI 10.1007/s10803-011-1403-x Beers S. 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Courchesne, Valerie Mottron, Laurent Frasnelli, Johannes TI Olfaction in the autism spectrum SO PERCEPTION LA English DT Article DE autism; Asperger syndrome; olfaction; smell; sensory processing ID PERVASIVE DEVELOPMENTAL DISORDERS; SMELL IDENTIFICATION TEST; ODOR RECOGNITION MEMORY; HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; CHILDREN; DISCRIMINATION; PERCEPTION; ADULTS; COLOR AB The autism spectrum (AS) is characterised by enhanced perception in vision and audition, described by the enhanced perceptual functioning (EPF) model. This model predicts enhanced low-level (discrimination of psychophysical dimensions), and mid- and high-level (pattern detection and identification) perception. The EPF model is here tested for olfaction by investigating olfactory function in autistic and Asperger participants. Experiment I targeted higher-order olfactory processing by assessing olfactory identification in nine Asperger, ten autistic, and eleven typically developed individuals. Experiment 2 focused on low-level olfactory processing; we assessed odour detection thresholds and odour discrimination in five Asperger, five autistic, and five typically developed males. Olfactory identification was impaired in autistic participants relative to control and Asperger participants. Typical performance in low-level olfactory processing suggests that neural mechanisms involved in the perceptual phenotype of AS do not affect structures implicated in olfactory processing. Reduced olfactory identification is limited to autistic participants who displayed speech delay and may be due to a reduced facility to use verbal labels. The apparent absence of enhanced olfactory perception of AS participants distinguishes the olfactory system from the other sensory modalities and might be caused by the absence of an obligatory thalamic relay. C1 [Galle, Sara A.; Mottron, Laurent] Univ Montreal CETEDUM, Ctr Excellence Troubles Envahissants Dev, Montreal, PQ, Canada. [Galle, Sara A.] Univ Amsterdam, Inst Interdisciplinary Studies, Amsterdam, Netherlands. [Courchesne, Valerie] Univ Montreal, Montreal, PQ H2V 2S9, Canada. [Frasnelli, Johannes] Univ Montreal, Dept Psychol, Ctr Rech Neuropsychol & Cognit CERNEC, Montreal, PQ H2V 2S9, Canada. RP Frasnelli, J (reprint author), Univ Montreal, Dept Psychol, Ctr Rech Neuropsychol & Cognit CERNEC, 90 Vincent dIndy, Montreal, PQ H2V 2S9, Canada. EM frasnelli@yahoo.com FU Canadian Institutes of Health Research [STN-63728] FX This project was financed by an operating Grant from the Canadian Institutes of Health Research to LM (STN-63728). IF is supported by a postdoctoral grant from the Canadian Institutes of Health Research. 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A qualitative inquiry was adopted in our study. Fifteen women participated in in-depth interviews, six of whom produced a solicited diary that offered a more in-depth insight into their lives. Thematic analysis was used to examine themes from the transcripts and diary entries. A number of themes emerged from the interview and diary data. First, the women articulated their perceptions of motherhood which included perceptions of an ideal mother, the mother role, the physical and emotional health of mothers and the mask of motherhood. Second, the data revealed the moral career of motherhood which discussed mother blame as a main issue. The findings of this study have implications for health and social care provided to women who are mothers of children with Asperger's Syndrome. C1 [Gill, Jessica; Liamputtong, Pranee] La Trobe Univ, Bundoora, Vic 3086, Australia. RP Liamputtong, P (reprint author), La Trobe Univ, Sch Publ Hlth, Bundoora, Vic 3086, Australia. 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Work PD JAN PY 2013 VL 12 IS 1 BP 41 EP 56 DI 10.1177/1473325011415565 PG 16 WC Social Work SC Social Work GA 152VJ UT WOS:000319559200004 ER PT J AU Kovachy, B O'Hara, R Hawkins, N Gershon, A Primeau, MM Madej, J Carrion, V AF Kovachy, Ben O'Hara, Ruth Hawkins, Nate Gershon, Anda Primeau, Michelle M. Madej, Jessica Carrion, Victor TI Sleep Disturbance in Pediatric PTSD: Current Findings and Future Directions SO JOURNAL OF CLINICAL SLEEP MEDICINE LA English DT Review DE Pediatric; PTSD; sleep disturbance; subjective measures; objective measures ID POSTTRAUMATIC-STRESS-DISORDER; SEXUAL ASSAULT SURVIVORS; COGNITIVE-BEHAVIORAL THERAPY; AUTISM SPECTRUM DISORDERS; SCHOOL-AGED CHILDREN; OPEN-LABEL TRIAL; HABITS QUESTIONNAIRE; NIGHTMARE FREQUENCY; PRESCHOOL-CHILDREN; IMAGERY REHEARSAL AB Many studies have provided strong evidence of a fundamental and complex role for sleep disturbances in adult posttraumatic stress disorder (PTSD). Investigations of adult PTSD using subjective and objective measures document sleep architecture abnormalities and high prevalence of sleep disordered breathing, periodic limb movement disorder, nightmares, and insomnia. PTSD treatment methods do appear to significantly improve sleep disturbance, and also studies suggest that treatments for sleep disorders often result in improvements in PTSD symptoms. Further, the most recent evidence suggests sleep abnormalities may precede the development of PTSD. Given the importance of sleep disorders to the onset, course, and treatment of adult PTSD, examination of sleep disturbances far earlier in the life course is imperative. Here we review the literature on what we know about sleep disturbances and disorders in pediatric PTSD. Our review indicates that the extant, empirical data examining sleep disturbance and disorders in pediatric PTSD is limited. 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Clin. Sleep Med. PY 2013 VL 9 IS 5 BP 503 EP 512 DI 10.5664/jcsm.2678 PG 10 WC Clinical Neurology SC Neurosciences & Neurology GA 147WC UT WOS:000319199100014 ER PT J AU Hayashi, T Yoshida, T Mishina, M AF Hayashi, Takashi Yoshida, Tomoyuki Mishina, Masayoshi TI IL1RAPL1 associated with mental retardation and autism regulates the formation and stabilization of glutamatergic synapses of cortical neurons through RhoA signaling pathway SO JOURNAL OF PHARMACOLOGICAL SCIENCES LA English DT Meeting Abstract CT 86th Annual Meeting of the Japanese-Pharmacological-Society CY MAR 21-23, 2013 CL Fukuoka, JAPAN SP Japanese Pharmacol Soc C1 [Hayashi, Takashi; Yoshida, Tomoyuki; Mishina, Masayoshi] Univ Tokyo, Grad Sch Med, Dept Mol Neurobiol & Pharmacol, Bunkyo Ku, Tokyo 1130033, Japan. [Mishina, Masayoshi] Ritsumeikan Univ, Brain Sci Lab, Kusatsu, Shiga 5258577, Japan. NR 0 TC 0 Z9 0 PU JAPANESE PHARMACOLOGICAL SOC PI KYOTO PA EDITORIAL OFF, KANTOHYA BLDG GOKOMACHI-EBISUGAWA NAKAGYO-KU, KYOTO, 604, JAPAN SN 1347-8613 J9 J PHARMACOL SCI JI J. Pharmacol. Sci. PY 2013 VL 121 SU 1 BP 121P EP 121P PG 1 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA 151WL UT WOS:000319491000404 ER PT J AU Takada, Y Hirano, M Kiyonaka, S Mori, Y AF Takada, Yoshinori Hirano, Mitsuru Kiyonaka, Shigeki Mori, Yasuo TI Mutation associated with autism modifies RIMS3-mediated modulation of voltage-dependent Ca2+ channels SO JOURNAL OF PHARMACOLOGICAL SCIENCES LA English DT Meeting Abstract CT 86th Annual Meeting of the Japanese-Pharmacological-Society CY MAR 21-23, 2013 CL Fukuoka, JAPAN SP Japanese Pharmacol Soc C1 [Takada, Yoshinori; Hirano, Mitsuru; Kiyonaka, Shigeki; Mori, Yasuo] Kyoto Univ, Grad Sch Engn, Dept Synthet Chem & Biol Chem, Nishikyo Ku, Kyoto 6158510, Japan. [Kiyonaka, Shigeki; Mori, Yasuo] Kyoto Univ, Dept Technol & Ecol, Nishikyo Ku, Kyoto 6158510, Japan. NR 0 TC 0 Z9 0 PU JAPANESE PHARMACOLOGICAL SOC PI KYOTO PA EDITORIAL OFF, KANTOHYA BLDG GOKOMACHI-EBISUGAWA NAKAGYO-KU, KYOTO, 604, JAPAN SN 1347-8613 J9 J PHARMACOL SCI JI J. Pharmacol. Sci. PY 2013 VL 121 SU 1 BP 173P EP 173P PG 1 WC Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA 151WL UT WOS:000319491000604 ER PT J AU Williamson, RL Casey, LB Robertson, JS Buggey, T AF Williamson, Robert L. Casey, Laura B. Robertson, Janna Siegel Buggey, Tom TI Video Self-Modeling in Children with Autism: A Pilot Study Validating Prerequisite Skills and Extending the Utilization of VSM across Skill Sets SO ASSISTIVE TECHNOLOGY LA English DT Article DE special education; video self-modeling; mobile technology; autism; prerequisite skills ID INTERVENTIONS; STUDENTS; BEHAVIOR; SCHOOL AB Given the recent interest in the use of video self-modeling (VSM) to provide instruction within iPod apps and other pieces of handheld mobile assistive technologies, investigating appropriate prerequisite skills for effective use of this intervention is particularly timely and relevant. To provide additional information regarding the efficacy of VSM for students with autism and to provide insights into any possible prerequisite skills students may require for such efficacy, the authors investigated the use of VSM in increasing the instances of effective initiations of interpersonal greetings for three students with autism that exhibited different pre-intervention abilities. Results showed that only one of the three participants showed an increase in self-initiated greetings following the viewing of videos edited to show each participant self-modeling a greeting when entering his or her classroom. Due to the differences in initial skill sets between the three children, this finding supports anecdotally observed student prerequisite abilities mentioned in previous studies that may be required to effectively utilize video based teaching methods. C1 [Williamson, Robert L.; Casey, Laura B.] Univ Memphis, Memphis, TN 38152 USA. 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PY 2013 VL 25 IS 2 BP 63 EP 71 DI 10.1080/10400435.2012.712604 PG 9 WC Rehabilitation SC Rehabilitation GA 144ZE UT WOS:000318981200001 PM 23923688 ER PT J AU Garcia, D Anckarsater, H Lundstrom, S AF Garcia, Danilo Anckarsater, Henrik Lundstrom, Sebastian TI Self-Directedness and Cooperativeness, Psychosocial Dysfunction and Suffering in ESSENCE SO SCIENTIFIC WORLD JOURNAL LA English DT Article ID AUTISM SPECTRUM DISORDERS; DEFICIT HYPERACTIVITY DISORDER; WELL-BEING THERAPY; PSYCHOBIOLOGICAL MODEL; CHARACTER INVENTORY; A-TAC; TEMPERAMENT; PERSONALITY; ADOLESCENTS; CHILDHOOD AB Background. The acronym ESSENCE (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) highlights that children seeking clinical treatment are often multiply impaired, thus requiring treatment from several specialties. The aim was to map and relate, on a population level, ESSENCE to two salient predictors of health and adaptation to adversities, namely, Self-Directedness and Cooperativeness and also to dysfunction and suffering. Methods. Participants were twins (N = 1892) aged 9 or 12 whose parents were interviewed with the Autism-Tics, ADHD and other Comorbidities inventory (A-TAC), and the Junior Temperament and Character Inventory (J-TCI). The A-TAC was first used to discern four ESSENCE-related screening diagnoses: autism spectrum disorders, attention deficit hyperactivity disorder, learning disabilities, and developmental coordination disorder; second, to quantify dysfunction and suffering in important social areas. Results. ESSENCE symptoms were continuously and categorically associated with deficiency in Self-Directedness and Cooperativeness and higher ratings of dysfunction and suffering. The impact of ESSENCE symptoms on these measures of mental health was found in a milder form in about 16% of all children and in a severe formin about 2%. Conclusion. Therapeutic interventions focusing on Self-Directedness and Cooperativeness might provide a novel method for child psychiatry in its approach to ESSENCE. C1 [Garcia, Danilo; Anckarsater, Henrik; Lundstrom, Sebastian] Univ Gothenburg, Ctr Eth Law & Mental Hlth CELAM, S-43141 Gothenburg, Sweden. [Garcia, Danilo; Anckarsater, Henrik; Lundstrom, Sebastian] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, S-43141 Gothenburg, Sweden. [Anckarsater, Henrik] Lund Univ, Dept Clin Sci, S-22100 Lund, Sweden. [Lundstrom, Sebastian] Swedish Prison & Probat Serv, R&D Unit, S-43141 Gothenburg, Sweden. [Lundstrom, Sebastian] Univ Gothenburg, Inst Neurosci & Physiol, Gillberg Neuropsychiat Ctr, S-40530 Gothenburg, Sweden. RP Garcia, D (reprint author), Univ Gothenburg, Ctr Eth Law & Mental Hlth CELAM, Wallinsgatan 8, S-43141 Gothenburg, Sweden. EM danilo.garcia@neuro.gu.se; sebastian.lundstrom@neuro.gu.se FU Swedish Council for Working Life and Social Research; Swedish Research Council, Systembolaget; National Board of Forensic Medicine, Swedish prison and Probation Services; Bank of Sweden Tercentenary Foundation FX The CATSS is supported by the Swedish Council for Working Life and Social Research, the Swedish Research Council, Systembolaget, the National Board of Forensic Medicine, Swedish prison and Probation Services, and the Bank of Sweden Tercentenary Foundation. 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TI The Genetics of Autism Spectrum Disorders - A Guide for Clinicians SO CURRENT PSYCHIATRY REPORTS LA English DT Article DE Autism spectrum disorders; ASDs; Autism genetics; Rare genetic variants; Copy number variants; CNVs; Single-nucleotide polymorphisms arrays; SNPs; Chromosome microarrays; Array comparative genomic hybridization; aCGH; Incomplete penetrance; Variable expressivity; Oligogenic heterozygosity; Unclassified variants; Synaptic plasticity; Genome sequencing; Common variant common disease model; CVCV; Rare variant common disease model; RVCD; Genetic disorders; Psychiatry ID COPY-NUMBER VARIATION; RARE DE-NOVO; HIGH-FREQUENCY; MUTATIONS; GENES; DELETIONS; MICE; DUPLICATIONS; INDIVIDUALS; VARIANTS AB Recent advances in genetic testing technology have made chromosome microarray analysis (CMA) a first-tier clinical diagnostic test for Autism Spectrum Disorders (ASDs). Two main types of microarrays are available, single nucleotide polymorphism (SNP) arrays and array comparative genomic hybridization (aCGH), each with its own advantages and disadvantages in ASDs testing. Rare genetic variants, and copy number variants (CNVs) in particular, have been shown to play a major role in ASDs. More than 200 autism susceptibility genes have been identified to date, and complex patterns of inheritance, such as oligogenic heterozygosity, appear to contribute to the etiopathogenesis of ASDs. Incomplete penetrance and variable expressivity represent particular challenges in the interpretation of CMA testing of autistic individuals. This review aims to provide an overview of autism genetics for the practicing physician and gives hands-on advice on how to follow-up on abnormal CMA findings in individuals with neuropsychiatric disorders. C1 [Heil, Karsten M.] Heidelberg Univ, Fac Med, D-69120 Heidelberg, Germany. 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Information on autistic symptoms, general cognitive function, speech and language, motor function, epilepsy, vision, hearing, activity level, behavior, and sleep was collected. Results. Three ASD categories were used: (1) autistic disorder (AD), (2) autistic-like condition (ALC) or Asperger syndrome, and (3) one group with autistic symptoms/traits but not entirely all its criteria met for ASD. Children with autism had a mean of 3.2 coexisting disorders or problems, the ALC/Asperger group had a mean of 1.6, and children with autistic traits had a mean of 1.6. The most common disorder/problems in the total group pertained to language problems (78%), intellectual disability (ID) (49%), below average motor function (37%), and severe hyperactivity/ADHD (33%). Conclusions. 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Martino, Davide TI Immune dysfunction in Tourette syndrome SO BEHAVIOURAL NEUROLOGY LA English DT Article DE Tourette syndrome; immunity; T cells; antibodies; neuroinflammation; allergy ID OBSESSIVE-COMPULSIVE DISORDER; NEUROPSYCHIATRIC DISORDERS; TIC DISORDER; STREPTOCOCCAL INFECTIONS; DIFFERENTIATE PANDAS; SERUM AUTOANTIBODIES; GLYCOLYTIC-ENZYMES; NEURONAL SURFACE; SYDENHAMS CHOREA; PYRUVATE-KINASE AB The association between immunity and neurodevelopmental disorders has been extensively investigated in autism, suggesting a potential involvement of both cellular and humoral immunity in the establishment of synaptic connectivity modulation during development. A similar link has been proposed also for Tourette syndrome (TS), a complex, multifactorial disorder, in which the interplay between genetic, environmental, hormonal and immunological factors might be relevant. Lymphocyte subpopulation analysis in TS suggests a possible systemic activation of several T- and B-cell subtypes, whereas the observed decreased numbers of T regulatory lymphocytes might predispose to autoimmunity. Genes related to both cell- and antibody-mediated immune responses may be over-expressed at specific ages in youngsters with TS. Data from cytokine measurements and transcriptomics profiles in TS patients are coherent with the systemic immune activation detected by studies on lymphocyte subpopulations. Moreover, TS patients have exhibited IgG3 and IgA dysgammaglobulinemia, which might predispose to recurrent infections and autoimmunity. To date, the association between TS and autoantibodies has not been demonstrated. Interestingly, however, there is a higher degree of maternal family history of autoimmune diseases among TS patients. Finally, TS patients could be prone to allergic illnesses (asthma, atopic dermatitis, rhinitis, conjunctivitis), but more work is needed in this area. C1 [Elamin, Ishraga; Edwards, Mark J.] UCL, Inst Neurol, Sobell Dept Motor Neurosci, London, England. [Martino, Davide] Queen Mary Univ London, Barts & London Sch Med & Dent, Ctr Neurosci & Trauma, London E1 2AT, England. [Martino, Davide] South London NHS Trust, Queen Elizabeth Hosp Woolwich, London, England. RP Martino, D (reprint author), Queen Mary Univ London, Neurosci & Trauma Ctr, Blizard Inst, 4 Newark St, London E1 2AT, England. 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Neurol. PY 2013 VL 27 IS 1 SI SI BP 23 EP 32 DI 10.3233/BEN-120295 PG 10 WC Clinical Neurology SC Neurosciences & Neurology GA 135BO UT WOS:000318261200005 PM 23187145 ER PT J AU Iourov, IY Vorsanova, SG Yurov, YB AF Iourov, I. Y. Vorsanova, S. G. Yurov, Y. B. TI Somatic Cell Genomics of Brain Disorders: A New Opportunity to Clarify Genetic-Environmental Interactions SO CYTOGENETIC AND GENOME RESEARCH LA English DT Article DE Brain disorders; Genome-wide association hypothesis; Mosaicism-genetic-environmental interactions; Somatic genome variations ID ATAXIA-TELANGIECTASIA BRAIN; CENTRAL-NERVOUS-SYSTEM; ALZHEIMERS-DISEASE; DNA-REPLICATION; NEUROPSYCHIATRIC DISORDERS; INTERPHASE CHROMOSOMES; WIDE ASSOCIATION; ANEUPLOIDY; AUTISM; MOSAICISM AB Recent genomic advances have exacerbated the problem of interpreting genome-wide association studies aimed at uncovering genetic basis of brain disorders. Despite of a plethora of data on candidate genes determining the susceptibility to neuropsychiatric diseases, no consensus is reached on their intrinsic contribution to the pathogenesis, and the influence of the environment on these genes is incompletely understood. Alternatively, single-cell analyses of the normal and diseased human brain have shown that somatic genome/epigenome variations (somatic mosaicism) do affect neuronal cell populations and are likely to mediate pathogenic processes associated with brain dysfunctions. Such (epi-)genomic changes are likely to arise from disturbances in genome maintenance and cell cycle regulation pathways as well as from environmental exposures. Therefore, one can suggest that, at least in a proportion of cases, inter- and intragenic variations (copy number variations (CNVs) or single nucleotide polymorphisms (SNPs)) associated with major brain disorders (i.e. schizophrenia, Alzheimer's disease, autism) lead to genetic dysregulation resulting in somatic genetic and epigenetic mosaicism. In addition, environmental influences on malfunctioning cellular machinery could trigger a cascade of abnormal processes producing genomic/chromosomal instability (i.e. brain-specific aneuploidy). Here, a brief analysis of a genome-wide association database has allowed us to support these speculations. Accordingly, an ontogenetic 2-/multiple-hit mechanism of brain diseases was hypothesized. Finally, we speculate that somatic cell genomics approach considering both genome-wide associations and somatic (epi-)genomic variations is likely to have bright perspectives for disease-oriented genome research. Copyright (C) 2013 S. Karger AG, Basel C1 [Iourov, I. Y.; Vorsanova, S. G.; Yurov, Y. B.] Russian Acad Med Sci, Mental Hlth Res Ctr, RU-119152 Moscow, Russia. [Iourov, I. Y.; Vorsanova, S. G.; Yurov, Y. B.] Moscow State Univ Psychol & Educ, Minist Hlth & Social Dev, Inst Pediat & Children Surg, Moscow, Russia. [Vorsanova, S. G.; Yurov, Y. B.] Moscow State Univ Psychol & Educ, Ctr Neurobiol Diag Genet Psychiat Disorders, Moscow, Russia. RP Iourov, IY (reprint author), Russian Acad Med Sci, Mental Hlth Res Ctr, Zagorodnoe Sh 2, RU-119152 Moscow, Russia. 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Studying early events in oncogenesis can be done on histologically normal tissues from diseased individuals (HNTDI), since they most likely have been exposed to the same mutagenic insults that caused the cancer in their neighboring tissues. Polarity assessment of HNTDI data variables by using healthy specimens as outgroup(s), followed by the application of parsimony phylogenetic analysis, produces a hierarchical classification of specimens that reveals the early events of the disease ontogeny within its subtypes as shared derived changes (abnormal changes) or synapomorphies in phylogenetic terminology. Copyright (C) 2013 S. Karger AG, Basel C1 [Abu-Asab, M. S.] NEI, Immunopathol Sect, NIH, Bethesda, MD 20892 USA. [Loffredo, C. A.] Georgetown Univ, Sch Med, Dept Biostat Bioinformat & Biomath, Washington, DC USA. [Loffredo, C. A.; Clarke, R.] Georgetown Univ, Sch Med, Lombardi Comprehens Canc Ctr, Dept Oncol, Washington, DC 20005 USA. 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PY 2013 VL 139 IS 3 BP 206 EP 214 DI 10.1159/000348433 PG 9 WC Cell Biology; Genetics & Heredity SC Cell Biology; Genetics & Heredity GA 137YS UT WOS:000318475100009 PM 23548567 ER PT J AU Farmer, C Thurm, A Grant, P AF Farmer, Cristan Thurm, Audrey Grant, Paul TI Pharmacotherapy for the Core Symptoms in Autistic Disorder: Current Status of the Research SO DRUGS LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; PLACEBO-CONTROLLED TRIAL; OPEN-LABEL TRIAL; CONTROLLED CROSSOVER TRIAL; CONTROLLED PILOT TRIAL; BEHAVIOR RATING FORM; SPECTRUM DISORDERS; DOUBLE-BLIND; REPETITIVE BEHAVIORS; PSYCHIATRIC-DISORDERS AB The current review covers extant literature on pharmacotherapy for core symptoms of autism. The core symptoms of autism include impairments in social interaction and communication, as well as the presence of restricted and repetitive behaviors. There are no known efficacious treatments for the core social symptoms, although effects on repetitive behaviors are indicated with some data. While studies of fenfluramine, secretin, opiates, and mood stabilizers generally find no effect, mixed results suggest more research is needed on antidepressants and atypical antipsychotics. Newer lines of research, including cholinergic and glutamatergic agents and oxytocin, will be of considerable interest in the future. However, research on the treatment of core symptoms is plagued by limitations in study design, statistical power, and other issues inherent to the study of treatments for autism (e.g., heterogeneity of the disorder) that continue to prevent the elucidation of efficacious treatments. C1 [Farmer, Cristan; Thurm, Audrey; Grant, Paul] NIMH, Pediat & Dev Neurosci Branch, Bethesda, MD 20892 USA. RP Farmer, C (reprint author), NIMH, Pediat & Dev Neurosci Branch, 10 Ctr Dr MSC 1255,Bldg 10,Room 1C250, Bethesda, MD 20892 USA. EM farmerca@mail.nih.gov FU National Institute of Mental Health (NIMH) of the National Institutes of Health (NIH) FX This work was supported by the Intramural Program of the National Institute of Mental Health (NIMH) of the National Institutes of Health (NIH). The views expressed in this article do not necessarily represent the views of the NIMH, NIH, the Department of Health and Human Services, or the United States Government. The authors have no conflicts of interest to report. 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Clinical; Psychiatry SC Psychology; Psychiatry GA 137YZ UT WOS:000318475900004 ER PT J AU Frick, LR Williams, K Pittenger, C AF Frick, Luciana Romina Williams, Kyle Pittenger, Christopher TI Microglial Dysregulation in Psychiatric Disease SO CLINICAL & DEVELOPMENTAL IMMUNOLOGY LA English DT Review ID DORSOLATERAL PREFRONTAL CORTEX; REGULATORY T-CELLS; AUTISM SPECTRUM DISORDERS; NITRIC-OXIDE PRODUCTION; RETT-SYNDROME; INTERFERON-GAMMA; CHRONIC-SCHIZOPHRENICS; ANIMAL-MODEL; IN-VITRO; HIPPOCAMPAL NEUROGENESIS AB Microglia, the brain's resident immune cells, are phagocytes of the macrophage lineage that have a key role in responding to inflammation and immune challenge in the brain. More recently, they have been shown to have a number of important roles beyond immune surveillance and response, including synaptic pruning during development and the support of adult neurogenesis. Microglial abnormalities have been found in several neuropsychiatric conditions, though in most cases it remains unclear whether these are causative or are a reaction to some other underlying pathophysiology. Here we summarize postmortem, animal, neuroimaging, and other evidence for microglial pathology in major depression, schizophrenia, autism, obsessive-compulsive disorder, and Tourette syndrome. We identify gaps in the existing literature and important areas for future research. If microglial pathology proves to be an important causative factor in these or other neuropsychiatric diseases, modulators of microglial function may represent a novel therapeutic strategy. C1 [Frick, Luciana Romina; Williams, Kyle; Pittenger, Christopher] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT 06519 USA. [Williams, Kyle; Pittenger, Christopher] Yale Univ, Sch Med, Ctr Child Study, New Haven, CT 06519 USA. [Pittenger, Christopher] Yale Univ, Sch Med, Dept Psychol, New Haven, CT 06519 USA. RP Pittenger, C (reprint author), Yale Univ, Sch Med, Dept Psychiat, 34 Pk St,W315, New Haven, CT 06519 USA. 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Dev. Immunol. PY 2013 AR 608654 DI 10.1155/2013/608654 PG 10 WC Immunology SC Immunology GA 132OB UT WOS:000318077300001 ER PT J AU Tete, S Varvara, G Murmura, G Saggini, A Maccauro, G Rosati, M Cianchetti, E Tripodi, D Toniato, E Fulcheri, M Caraffa, A Antinolfi, P Pandolfi, F Potalivo, G Conti, P Theoharides, TC AF Tete, S. Varvara, G. Murmura, G. Saggini, A. Maccauro, G. Rosati, M. Cianchetti, E. Tripodi, D. Toniato, E. Fulcheri, M. Caraffa, A. Antinolfi, P. Pandolfi, F. Potalivo, G. Conti, P. Theoharides, T. C. TI IMPACT OF IMMUNITY IN AUTISM SPECTRUM DISORDERS SO EUROPEAN JOURNAL OF INFLAMMATION LA English DT Editorial Material DE autism spectrum disorders; cytokines; inflammation; immunity ID CORTICOTROPIN-RELEASING HORMONE; BLOOD MONONUCLEAR-CELLS; NECROSIS-FACTOR-ALPHA; MESSENGER-RNA EXPRESSION; PERIPHERAL-BLOOD; MAST-CELLS; T-CELLS; SYSTEMIC-SCLEROSIS; IN-VITRO; INFLAMMATORY RESPONSE AB Autism spectrum disorders (ASDs) are childhood psychopathologies characterized by having difficulties in social interaction, verbal and non-verbal communication as well as sensor motor movements. Evidence suggests that in ASDs environmental toxicant exposure, genetic and mitochondrial dysfunction are involved associated with abnormal immune response with allergic problems and elevated serum IgE. ASDs present the major cytokine and chemokine dysfunction in CNS and is mediated by an increase of pro-inflammatory cytokine levels in the brain, such as TNF, IL-I, IFN-gamma, IL-6, IL-8 and others. Mast cells, which are also implicated in ASDs, are worsened by stress and produce proinflammatory cytokines and can be stimulated by neurotensin in the brain and gut, contributing also to the inflammatory response. However, the exact etiology of ASDs remains largely unknown. C1 [Tete, S.; Varvara, G.; Murmura, G.; Tripodi, D.] Univ Chiet Pescarai, Sch Dent, Chieti, Italy. [Saggini, A.] Univ Roma Tor Vergata, Dept Dermatol, Rome, Italy. [Maccauro, G.] Univ Cattolica, Orthoped Div, Rome, Italy. [Rosati, M.] Osped Pescara, Gynecol Div, Pescara, Italy. [Cianchetti, E.] Ortona ASL Hosp, Dept Surg, Ortona, Italy. [Toniato, E.; Conti, P.] Univ G dAnnunzio, Sch Med, Div Immunol, Chieti, Italy. [Fulcheri, M.] Univ G dAnnunzio, Sch Psychol, Chieti, Italy. [Caraffa, A.; Antinolfi, P.; Potalivo, G.] Univ Perugia, Orthopead Div, I-06100 Perugia, Italy. [Pandolfi, F.] Univ Cattolica Sacro Cuore, Dept Med, Rome, Italy. [Theoharides, T. 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Long-term exposure (>4 h) of dbcAMP (1 mM) to SERT-expressing RN46A cells significantly up-regulated SERT activity. In addition, a selective PKA activator, but not a selective EPAC activator, increased the serotonin uptake activity of SERT, suggesting that this regulation was mainly mediated via PKA. Time-dependent up-regulation of SERT activity by dbcAMP was accompanied by neural differentiation of RN46A cells. Further investigation of dbcAMP-induced up-regulation of SERT revealed that dbcAMP elevated SERT protein levels without affecting SERT mRNA transcription. The chase assay for residual SERT protein revealed that dbcAMP slowed its degradation rate. Immunohistochemical analysis revealed that plasma membrane-localized SERT was more abundant in dbcAMP-treated cells than in non-treated cells, suggesting that dbcAMP up-regulated SERT by decreasing its degradation and increasing its plasma membrane expression. These results raise the possibility that the elevation of intracellular cAMP up-regulated SERT function through a mechanism linked to the differentiation of RN46A cells and show the importance of SERT function during the developmental process of the serotonergic nervous system. C1 [Yammamoto, Hikaru; Tanaka, Shigeru; Tanaka, Anna; Hide, Izumi; Seki, Takahiro; Sakai, Norio] Hiroshima Univ, Inst Biomed & Hlth Sci, Dept Mol & Pharmacol Neurosci, Minami Ku, Hiroshima 7348551, Japan. RP Sakai, N (reprint author), Hiroshima Univ, Inst Biomed & Hlth Sci, Dept Mol & Pharmacol Neurosci, Minami Ku, 1-2-3 Kasumi, Hiroshima 7348551, Japan. EM nsakai@hiroshima-u.ac.jp FU Ministry of Education, Culture, Sports, Science and Technology; Takeda Science Foundation; Uehara Memorial Foundation; Naito Foundation; Suzuken Memorial Foundation; Tokyo Biochemical Research Foundation; Japanese Smoking Research Association FX This study was supported by a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science and Technology and by grants from the Takeda Science Foundation, Uehara Memorial Foundation, Naito Foundation, Suzuken Memorial Foundation, Tokyo Biochemical Research Foundation, and Japanese Smoking Research Association. This work was carried out using equipment at the Analysis Center of Life Science and Research Institute for Radiation Biology and Medicine, Hiroshima University. 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Here we evaluated the performance of children/adolescents with autism spectrum disorders (ASD) and neurotypical controls in this audiovisual congruency phenomenon. Pairs of visual patterns (curvilinear vs rectilinear) were presented to a group of ASD participants (low- or high-functioning) and a group of age-matched neurotypical controls. Participants were asked to associate each item to non-meaningful phoneme clusters. ASD participants showed a lower proportion of expected association responses than the controls. Within the ASD group the performance varied as a function of the severity of the symptomatology. These data suggest that children/adolescents with ASD show, although at different degrees as a function of the severity of the ASD, lower phonetic-iconic congruency response patterns than neurotypical controls, pointing to poorer multisensory integration capabilities. C1 [Occelli, Valeria; Esposito, Gianluca; Venuti, Paola; Zampini, Massimiliano] Univ Trent, Dept Psychol & Cognit Sci, Rovereto, TN, Italy. [Esposito, Gianluca] RIKEN Brain Sci Inst, Kuroda Res Unit Affiliat Social Behav, Wako, Saitama, Japan. [Arduino, Giuseppe Maurizio] Ctr Autism & Asperger Syndrome, Mondovi, Italy. [Zampini, Massimiliano] Univ Trent, Ctr Mind Brain Sci, CIMeC, Rovereto, TN, Italy. RP Occelli, V (reprint author), Emory Univ, Sch Med, Dept Neurol, Woodruff Mem Res Bldg,Suite 6209,101 Woodruff Cir, Atlanta, GA 30322 USA. EM valeria.occelli@gmail.com RI Esposito, Gianluca/B-1374-2012; Esposito, Gianluca/K-9353-2013 OI Esposito, Gianluca/0000-0002-9442-0254; Esposito, Gianluca/0000-0002-9442-0254 CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Aveyard ME, 2012, MEM COGNITION, V40, P83, DOI 10.3758/s13421-011-0139-3 Bebko JM, 2006, J CHILD PSYCHOL PSYC, V47, P88, DOI 10.1111/j.1469-7610.2005.01443.x BENARTZI E, 1995, PERCEPT PSYCHOPHYS, V57, P1151, DOI 10.3758/BF03208371 Church BA, 2010, PSYCHON B REV, V17, P862, DOI [10.3758/PBR.17.6.862, 10.3738/PBR.17.6.862] CIESIELSKI KT, 1995, NEUROPSYCHOLOGIA, V33, P225, DOI 10.1016/0028-3932(94)00094-6 Kadosh RC, 2007, CURR BIOL, V17, pR834 Collignon O, CORTEX IN PRESS COURCHESNE E, 1994, BEHAV NEUROSCI, V108, P848, DOI 10.1037//0735-7044.108.5.848 Farran EK, 2011, AUTISM RES, V4, P283, DOI 10.1002/aur.202 Foss-Feig JH, 2010, EXP BRAIN RES, V203, P381, DOI 10.1007/s00221-010-2240-4 Frith U., 1989, AUTISM EXPLAINING EN Gallace A, 2006, PERCEPT PSYCHOPHYS, V68, P1191, DOI 10.3758/BF03193720 GARNER WR, 1977, B PSYCHONOMIC SOC, V9, P380 Grinter EJ, 2010, J CHILD PSYCHOL PSYC, V51, P717, DOI 10.1111/j.1469-7610.2009.02203.x HOLLAND MK, 1964, PERCEPT MOTOR SKILL, V19, P111 Iarocci G, 2006, J AUTISM DEV DISORD, V36, P77, DOI 10.1007/s10803-005-0044-3 JOLICOEUR P, 1987, J EXP PSYCHOL HUMAN, V13, P478, DOI 10.1037/0096-1523.13.3.478 Klinger LG, 2001, DEV PSYCHOPATHOL, V13, P111, DOI 10.1017/S0954579401001080 Kohler W., 1929, GESTALT PSYCHOL LEWKOWICZ DJ, 1980, DEV PSYCHOL, V16, P597 Lord C., 2001, AUTISM DIAGNOSTIC OB MARKS LE, 1987, J EXP PSYCHOL HUMAN, V13, P384, DOI 10.1037/0096-1523.13.3.384 MARKS LE, 1983, INT J NEUROSCI, V19, P1, DOI 10.3109/00207458309148640 MARKS LE, 1987, MONOGR SOC RES CHILD, V52, P1 MARKS LE, 1974, AM J PSYCHOL, V87, P173, DOI 10.2307/1422011 Martino G, 1999, PERCEPTION, V28, P903, DOI 10.1068/p2866 Maurer D, 2006, DEVELOPMENTAL SCI, V9, P316, DOI 10.1111/j.1467-7687.2006.00495.x MELARA RD, 1989, J EXP PSYCHOL HUMAN, V15, P212, DOI 10.1037//0096-1523.15.2.212 MELARA RD, 1990, MEM COGNITION, V18, P477, DOI 10.3758/BF03198481 MELARA RD, 1987, J EXP PSYCHOL GEN, V116, P323 Mondloch CJ, 2004, COGN AFFECT BEHAV NE, V4, P133, DOI 10.3758/CABN.4.2.133 Newman SS, 1933, AM J PSYCHOL, V45, P53, DOI 10.2307/1414186 Nielsen A, 2011, CAN J EXP PSYCHOL, V65, P115, DOI 10.1037/a0022268 Oberman LM, 2008, SOC NEUROSCI, V3, P348, DOI 10.1080/17470910701563681 OBOYLE MW, 1987, J PSYCHOLINGUIST RES, V16, P273, DOI 10.1007/BF01067547 Plaisted K, 2003, PHILOS T ROY SOC B, V358, P375, DOI 10.1098/rstb.2002.1211 Ramachandran V, 2001, J CONSCIOUSNESS STUD, V8, P3 Ramachandran Vilayanur S., 2003, SCI AM, V288, P43, DOI DOI 10.1038/SCIENTIFICAMERICAN0503-52 Rogers SJ, 2005, J CHILD PSYCHOL PSYC, V46, P1255, DOI 10.1111/j.1469-7610.2005.01431.x Sapir E, 1929, J EXP PSYCHOL, V12, P225, DOI 10.1037/h0070931 Schaaf R, 2011, J AUTISM DEV DISORD, V41, P1436, DOI 10.1007/s10803-011-1303-0 SHULMAN C, 1995, J ABNORM PSYCHOL, V104, P601, DOI 10.1037//0021-843X.104.4.601 Soulieres I, 2007, J AUTISM DEV DISORD, V37, P481, DOI 10.1007/s10803-006-0172-4 Spence C, 2011, ATTEN PERCEPT PSYCHO, V73, P971, DOI 10.3758/s13414-010-0073-7 Taya S, 2007, PERCEPTION, V36, P3, DOI 10.1068/p5597 Thompson PD, 2011, Q J EXP PSYCHOL, V64, P2392, DOI 10.1080/17470218.2011.605898 WALKER R, 1987, PERCEPT PSYCHOPHYS, V42, P491, DOI 10.3758/BF03209757 Westbury C, 2005, BRAIN LANG, V93, P10, DOI 10.1016/j.bandl.2004.07.006 NR 49 TC 0 Z9 0 PU PION LTD PI LONDON PA 207 BRONDESBURY PARK, LONDON NW2 5JN, ENGLAND SN 0301-0066 J9 PERCEPTION JI Perception PY 2013 VL 42 IS 2 BP 233 EP 241 DI 10.1068/p7357 PG 9 WC Psychology; Psychology, Experimental SC Psychology GA 133ME UT WOS:000318141700010 PM 23700961 ER PT J AU Brosnan, M Ashwin, C Gamble, T AF Brosnan, Mark Ashwin, Chris Gamble, Tim TI Greater Empathizing and reduced Systemizing in people who show a jumping to conclusions bias in the general population: Implications for psychosis SO PSYCHOSIS-PSYCHOLOGICAL SOCIAL AND INTEGRATIVE APPROACHES LA English DT Article DE jumping to conclusions; Empathizing; Systemizing; hypermentalizing; global/local processing; psychosis; clinical psychology; delusions; theory of mind ID MALE BRAIN THEORY; PERSECUTORY DELUSIONS; AUTISM; SCHIZOPHRENIA; SCHIZOTYPY; SYMPTOMS AB Background: Females generally perform better than males on some measures of social processing (e. g. Empathizing), while males typically perform better than females on some measures of non-social processing (e. g. Systemizing). Extremes of these sex-typical cognitive profiles are associated with the development and maintenance of certain psychiatric disorders. For example, the autismpsychosis model predicts psychosis spectrum conditions can be characterized as a cognitive pattern of very poor Systemizing alongside superior Empathizing ability (autism demonstrating the diametrically opposing cognitive profile). However, little experimental research has been carried out to date testing the cognitive profile associated with psychosis. Methods: The present study used a large non-clinical sample to investigate the relationship between a "jumping to conclusions" (JTC) reasoning bias commonly seen in patients with delusions and measures of Empathizing and Systemizing. Results: Those showing a JTC bias demonstrated greater Empathizing and reduced Systemizing compared to a non-JTC group, irrespective of biological sex. Sex differences were identified in Empathizing and Systemizing but not the JTC. Conclusions: These results show a cognitive pattern consistent with predictions from the autism-psychosis model. In a non-clinical population, a reasoning bias associated with delusions is associated with an Emphasizing/Systemizing profile opposite to that characteristic of autism. C1 [Brosnan, Mark; Ashwin, Chris; Gamble, Tim] 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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TI Commentary on PND at 25 SO REMEDIAL AND SPECIAL EDUCATION LA English DT Editorial Material DE single case research design; meta-analysis ID SINGLE-SUBJECT RESEARCH; QUANTITATIVE SYNTHESIS; PROBLEM BEHAVIOR; METAANALYSIS; METHODOLOGY; PERCENTAGE AB The author provides commentary on the scientific enterprise of single-case meta-analysis, including experiences with and use of the percentage of nonoverlapping data statistic. The author provides a brief review and commentary on the benefits and liabilities of the PND statistic as well as other effect size metrics. The article includes general commentary about the perception and position of single-subject meta-analysis and its use to inform health insurance decision making in the field of autism. The commentary ends with predictions and recommendations for single-case meta-analysis in the next 25 years. C1 Univ Kentucky, Lexington, KY 40506 USA. RP Campbell, JM (reprint author), Univ Kentucky, 236 Dickey Hall, Lexington, KY 40506 USA. 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PD JAN PY 2013 VL 118 IS 1 BP 3 EP 15 DI 10.1352/1944-7558-118.1.3 PG 13 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 130JZ UT WOS:000317912500002 PM 23301899 ER PT J AU Carter, EW Lane, KL Cooney, M Weir, K Moss, CK Machalicek, W AF Carter, Erik W. Lane, Kathleen Lynne Cooney, Molly Weir, Katherine Moss, Colleen K. Machalicek, Wendy TI Parent Assessments of Self-determination Importance and Performance for Students with Autism or Intellectual Disability SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE self-determination; families; severe disabilities; autism; inclusion ID TRANSITION-AGE YOUTH; DETERMINATION SKILLS; MENTAL-RETARDATION; SPECIAL EDUCATORS; PERSPECTIVES; OPPORTUNITIES; ELEMENTARY; PREDICTORS; TEACHERS; CHILDREN AB Fostering student self-determination is now considered an essential element of special education and transition services for children and youth with intellectual disability and/ or autism. Yet, little is known about the pivotal role parents might play beyond the school campus in fostering self-determination among their children with developmental disabilities. We examined how 627 parents of children with intellectual disability or autism attending one of 34 randomly selected school districts (a) rated the importance of 7 component skills associated with self-determination, (b) assessed their children's performance in relation to those 7 skills, and (c) evaluated the overall self-determination capacities of their children. Although parents highly valued all of the self-determination skills, the degree to which their children were reported to perform the skills well was fairly low. Several factors predicted higher levels of self-determination, including educational setting, the presence of challenging behaviors, and perceived disability severity. We conclude by offering recommendations for equipping parents to better support their children's self-determination development. C1 [Carter, Erik W.] Vanderbilt Univ, Nashville, TN USA. [Lane, Kathleen Lynne] Univ Kansas, Lawrence, KS 66045 USA. 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PD JAN PY 2013 VL 118 IS 1 BP 16 EP 31 DI 10.1352/1944-7558-118.1.16 PG 16 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 130JZ UT WOS:000317912500003 PM 23301900 ER PT J AU Grondhuis, SN Mulick, JA AF Grondhuis, Sabrina Nicole Mulick, James A. TI Comparison of the Leiter International Performance Scale-Revised and the Stanford-Binet Intelligence Scales, 5th Edition, in Children with Autism Spectrum Disorders SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE autism; intelligence; assessment; cognitive functioning; evaluation ID PERVASIVE DEVELOPMENTAL DISORDERS; EPIDEMIOLOGY; INDIVIDUALS; SCORES; LEVEL; IQ AB A review of hospital records was conducted for children evaluated for autism spectrum disorders who completed both the Leiter International Performance Scale-Revised (Leiter-R) and Stanford-Binet Intelligence Scales, 5th Edition (SB5). Participants were between 3 and 12 years of age. Diagnoses were autistic disorder (n = 26, 55%) and pervasive developmental disorder-not otherwise specified (n = 21, 45%). Analysis showed that the full sample received significantly higher scores on the Leiter-R than SB5 (mean discrepancy of 20.91 points), specific diagnosis was not a significant factor, and younger children had a larger discrepancy between tests. These analyses strongly suggest that the Leiter-R and the SB5 may not be equivalent measures of intellectual functioning in children with autism spectrum disorders, and that use of one or the other exclusively could lead to misclassification of intellectual capacity. C1 [Grondhuis, Sabrina Nicole] Ohio State Univ, Nisonger Ctr, Columbus, OH 43210 USA. [Mulick, James A.] Ohio State Univ, Columbus, OH 43210 USA. RP Grondhuis, SN (reprint author), Ohio State Univ, Nisonger Ctr, 1581 Dodd Dr 175, Columbus, OH 43210 USA. 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PD JAN PY 2013 VL 118 IS 1 BP 44 EP 54 DI 10.1352/1944-7558-118.1.44 PG 11 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 130JZ UT WOS:000317912500005 PM 23301902 ER PT J AU Moss, J Oliver, C Nelson, L Richards, C Hall, S AF Moss, Joanna Oliver, Chris Nelson, Lisa Richards, Caroline Hall, Scott TI Delineating the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes SO AJIDD-AMERICAN JOURNAL ON INTELLECTUAL AND DEVELOPMENTAL DISABILITIES LA English DT Article DE autism spectrum disorder; Cornelia de Lange syndrome; Fragile X syndrome; behavioral phenotypes ID SELF-INJURIOUS-BEHAVIOR; GENOTYPE-PHENOTYPE CORRELATIONS; INTELLECTUAL DISABILITY; GENETIC SYNDROMES; SOCIAL ANXIETY; DOWN-SYNDROME; NIPPED-B; CHILDREN; COMMUNICATION; INDIVIDUALS AB An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n = 130, M age = 17.19), Fragile X syndrome (n 5 182, M age 5 16.94), and autism spectrum disorder (n = 142, M age = 15.19), who were comparable on chronological age. Using the Social Communication Questionnaire, the proportion meeting cutoff for autism spectrum disorder and autism was 78.6%, and 45.6%, respectively, in Cornelia de Lange syndrome and 83.6% and 48.6% in Fragile X syndrome. Domain and item analyses indicate differing, atypical autism spectrum disorder profiles in Fragile X and Cornelia de Lange syndromes. A limited association between adaptive behavior and autism spectrum disorder was identified in all groups. The findings have implications for intervention in genetic syndromes and conceptualization of autism spectrum disorder in the wider population. C1 [Moss, Joanna] Univ Birmingham, Sch Psychol, Cerebra Ctr Neurodev Disorders, Birmingham B15 2TT, Edgbaston, England. 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J. Intellect. Dev. Disabil. PD JAN PY 2013 VL 118 IS 1 BP 55 EP 73 DI 10.1352/1944-7558-118.1.55 PG 19 WC Education, Special; Rehabilitation SC Education & Educational Research; Rehabilitation GA 130JZ UT WOS:000317912500006 PM 23301903 ER PT J AU Eyal, G AF Eyal, Gil TI For a Sociology of Expertise: The Social Origins of the Autism Epidemic SO AMERICAN JOURNAL OF SOCIOLOGY LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; EARLY INFANTILE-AUTISM; CHILDHOOD SCHIZOPHRENIA; PSYCHOTIC-CHILDREN; DIAGNOSTIC SUBSTITUTION; SPECTRUM DISORDERS; PREVALENCE; PARENTS; CLASSIFICATION; CALIFORNIA AB This article endeavors to replace the sociology of professions with the more comprehensive and timely sociology of expertise. It suggests that we need to distinguish between experts and expertise as requiring two distinct modes of analysis that are not reducible to one another. It analyzes expertise as a network linking together agents, devices, concepts, and institutional and spatial arrangements. It also suggests rethinking how abstraction and power were analyzed in the sociology of professions. The utility of this approach is demonstrated by using it to explain the recent precipitous rise in autism diagnoses. This article shows that autism remained a rare disorder until the deinstitutionalization of mental retardation created a new institutional matrix within which a new set of actors-the parents of children with autism in alliance with psychologists and therapists-were able to forge an alternative network of expertise. C1 [Eyal, Gil] Columbia Univ, New York, NY 10027 USA. RP Eyal, G (reprint author), Columbia Univ, Dept Sociol, 1180 Amsterdam Ave, New York, NY 10027 USA. 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J. Sociol. PD JAN PY 2013 VL 118 IS 4 BP 863 EP 907 DI 10.1086/668448 PG 45 WC Sociology SC Sociology GA 125ZF UT WOS:000317580100001 ER PT J AU Khayatzadeh, MM Rostami, HR Amirsalari, S Karimloo, M AF Khayatzadeh, Mohammad Mahani Rostami, Hamid Reza Amirsalari, Susan Karimloo, Masood TI Investigation of quality of life in mothers of children with cerebral palsy in Iran: association with socio-economic status, marital satisfaction and fatigue SO DISABILITY AND REHABILITATION LA English DT Article DE Cerebral palsy; fatigue; Iran; marital satisfaction; mothers; quality of life; socio-economic status ID MENTAL-RETARDATION; PRIMARY CAREGIVERS; BEHAVIOR PROBLEMS; PARENTAL STRESS; BIRTH-WEIGHT; AUTISM; IMPACT; DISABILITY; FATHERS; HEALTH AB Purpose: This study aimed to compare the quality of life (QOL) of Mothers of Children with Cerebral Palsy (MCCPs) with mothers of Typically Developing (TD) children as a Control Group (CG). The association of the mediating variables including socio-economic status (SES), marital satisfaction and fatigue with maternal QOL was also evaluated. Method: The MCCPs group consisted of 120 mothers (mean age: 30.3 +/- 5.5 years) of children with CP. The CG included 100 mothers (mean age: 29.9 +/- 4.5 years) of TD children. Demographic characteristics of the participants were recorded and the data was collected by World Health Organization Quality of Life-BREF (WHOQOL-BREF), SES Questionnaire, Index of Marital Satisfaction (IMS) and Fatigue Severity Scale-Persian (FSS-P). Data analysis was done by SPSS version 16.0. Results: The QOL and SES were lower, while FSS-P and IMS were higher in MCCPs group than CG (p < 0.001). The SES, IMS and FSS-P associated with all domains of QOL in MCCPs group, while they did just with some domains of QOL in CG (p < 0.05). Conclusions: The lower QOL in MCCPs group is supposed to be mediated by the SES, marital satisfaction and fatigue so, maternal empowerment in terms of these mediators and family-centered approach are recommended. C1 [Khayatzadeh, Mohammad Mahani; Rostami, Hamid Reza] Ahvaz Jundishapur Univ Med Sci, Musculoskeletal Rehabil Res Ctr, Occupat Therapy Dept, Ahwaz, Iran. [Amirsalari, Susan] Baqi Atollah Univ Med Sci, Dept Neurol, Tehran, Iran. [Karimloo, Masood] Univ Wellfare & Rehabil, Dept Stat & Comp Sci, Tehran, Iran. RP Khayatzadeh, MM (reprint author), Ahvaz Jundishapur Univ Med Sci, Musculoskeletal Rehabil Res Ctr, Occupat Therapy Dept, Ahwaz, Iran. 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Rehabil. PY 2013 VL 35 IS 10 BP 803 EP 808 DI 10.3109/09638288.2012.708818 PG 6 WC Rehabilitation SC Rehabilitation GA 130NR UT WOS:000317925600002 PM 22900516 ER PT J AU Merceron, K Prouteau, A AF Merceron, Karine Prouteau, Antoinette TI Social cognition assessment in French language for adults: Available tools and recommendations for clinical practice SO EVOLUTION PSYCHIATRIQUE LA French DT Article DE Social cognition; Theory of mind; Emotion; Schizophrenia; Assessment scale; Neuropsychology ID TORONTO-ALEXITHYMIA-SCALE; EMOTIONAL AWARENESS SCALE; HIGH-FUNCTIONING AUTISM; BASIC EMPATHY SCALE; ASPERGER-SYNDROME; SCHIZOPHRENIA; VALIDATION; MIND; DISORDERS; QUOTIENT AB Social cognition is described as the processes underlying interpersonal relationships. The crucial role of these processes in rehabilitation, especially in adult psychiatry, has raised needs of clinical assessment in this particular cognitive domain. However, social cognition is a multidimensional construct which has been studied in numerous recent international researches. This review is aimed at inventorying available tools in French language for social cognition assessment in adults, and at drawing recommendation for practice in clinical neuropsychology. Results show that despite the lack of available tools, the assessment of social cognition is feasible in several dimensions, such as facial emotion recognition, theory of mind, alexithymia and emotional awareness. Each of the identified tools has specific benefits and limits that delimitate their potential usefulness. Globally, the incomplete validation of tools, as Well as their heterogeneity and their multidetermination should lead to some caution when assessing performances and interpreting results. However, when crossing assessments and controlling for basic neurocognitive difficulties, the identified tools can provide detailed information about each patient's social cognition profile. Studies remain necessary to further validate existing tools and to allow more reliable and diversified assessment. (C) 2013 Elsevier Masson SAS. All rights reserved. C1 [Merceron, Karine] Ctr Rehabil Psychosociale Tour Gassies, F-33523 Brugge, France. [Prouteau, Antoinette] Ctr Hosp Jonzac, Dept Psychiat Adulte, F-17500 Jonzac, France. RP Prouteau, A (reprint author), Univ Bordeaux, EA 4139, 3 Ter Pl de la Victoire, F-33000 Bordeaux, France. 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Psychiatr. PD JAN-MAR PY 2013 VL 78 IS 1 BP 53 EP 70 DI 10.1016/j.evopsy.2013.01.002 PG 18 WC Psychiatry SC Psychiatry GA 127KC UT WOS:000317696900005 ER PT J AU Rastam, M Taljemark, J Tajnia, A Lundstrom, S Gustafsson, P Lichtenstein, P Gillberg, C Anckarsater, H Kerekes, N AF Rastam, Maria Taljemark, Jakob Tajnia, Armin Lundstrom, Sebastian Gustafsson, Peik Lichtenstein, Paul Gillberg, Christopher Anckarsater, Henrik Kerekes, Nora TI Eating Problems and Overlap with ADHD and Autism Spectrum Disorders in a Nationwide Twin Study of 9-and 12-Year-Old Children SO SCIENTIFIC WORLD JOURNAL LA English DT Article ID ANOREXIA-NERVOSA; TELEPHONE INTERVIEW; RISK-FACTORS; A-TAC; ADOLESCENT; CHILDHOOD; FOOD; SURVEILLANCE; BEHAVIORS; AD/HD AB Aim. To establish the prevalence of restrictive eating problems, the overlap and association with attention-deficit/hyperactivity disorder (ADHD), and autism spectrum disorders (ASD) and to estimate the heritability of eating problems in a general population sample of twins aged 9 and 12. Methods. Parents of all Swedish 9- and 12-year-old twin pairs born between 1993 and 1998 (n = 12,366) were interviewed regarding symptoms of ADHD, ASD, and eating problems (EAT-P). Intraclass correlations and structural equation modelling were used for evaluating the influence of genetic and environmental factors. Cross-twin, cross-trait correlations were used to indicate a possible overlap between conditions. Results. The prevalence of eating problems was 0.6% in the study population and was significantly higher in children with ADHD and/or ASD. Among children with eating problems, 40% were screened positive for ADHD and/or ASD. Social interaction problems were strongly associated with EAT-P in girls, and impulsivity and activity problems with EAT-P in boys. The cross-twin, cross-trait correlations suggested low correlations between EAT-P and ADHD or EAT-P and ASD. Genetic effects accounted for 44% of the variation in liability for eating problems. Conclusions. In the group with eating problems, there was a clear overrepresentation of individuals with ADHD and/or ASD symptoms. C1 [Rastam, Maria; Taljemark, Jakob; Gustafsson, Peik] Lund Univ, Dept Clin Sci, SE-22241 Lund, Sweden. [Tajnia, Armin; Lundstrom, Sebastian; Anckarsater, Henrik; Kerekes, Nora] Univ Gothenburg, Ctr Eth Law & Mental Hlth CELAM, SE-43141 Molndal, Sweden. [Lundstrom, Sebastian; Kerekes, Nora] Swedish Prison & Probat Serv, R&D Unit, SE-43141 Molndal, Sweden. [Lundstrom, Sebastian; Gillberg, Christopher] Univ Gothenburg, Inst Neurosci & Physiol, Gillberg Neuropsychiat Ctr, SE-41119 Gothenburg, Sweden. [Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17165 Solna, Sweden. RP Rastam, M (reprint author), Lund Univ, Dept Clin Sci, Sofiavagen 2D, SE-22241 Lund, Sweden. EM maria.rastam@med.lu.se RI Kerekes, Nora/C-6474-2009; Taljemark, Jakob/C-1605-2015 OI Taljemark, Jakob/0000-0002-5322-3289 FU Swedish Council for Working Life and Social Research; Swedish Research Council (Medicine) FX The CATSS-9/12-study is supported by the Swedish Council for Working Life and Social Research and the Swedish Research Council (Medicine). The authors have no conflict of interests including financial interests and relationships and affiliations relevant to the subject of this paper. The participants gave informed written consent. 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World J. PY 2013 AR 315429 DI 10.1155/2013/315429 PG 7 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 132SV UT WOS:000318089900001 ER PT J AU McConkey, R Samadi, SA AF McConkey, Roy Samadi, Sayyed Ali TI The impact of mutual support on Iranian parents of children with an autism spectrum disorder: a longitudinal study SO DISABILITY AND REHABILITATION LA English DT Article DE Autism spectrum disorder; family support; Iran; parent education ID INTELLECTUAL DISABILITIES; COPING STRATEGIES; SOCIAL SUPPORT; YOUNG-CHILDREN; MOTHERS; STRESS; INTERVENTION; METAANALYSIS; PERCEPTIONS; PRESCHOOL AB Purpose: In less affluent countries with scarce professional resources, the mutual support from family and other parents may form the main assistance available to parents of children with developmental disabilities. However, few studies have attempted to promote mutual support among parents. Method: 28 mothers and fathers who attended a group-based training course on autism spectrum disorders were followed up after 12 months. Qualitative and quantitative data on parental wellbeing were gathered at three time points: before, 3 months after the course and then again 12 months later. Results: Eight parents (@30%) maintained contact with one another over the year and this grouping provided a natural experiment with those who had no further contact. All parents maintained improvements on self-rated health and family functioning but these tended to be greater for those who had maintained contact with one another. The post-training gains on parental stress had reverted to baseline levels for both groups. Conclusions: Despite opportunities to do so, most of these Iranian parents chose not to seek support from other families which may reflect cultural dispositions. 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Rehabil. PY 2013 VL 35 IS 9 BP 775 EP 784 DI 10.3109/09638288.2012.707744 PG 10 WC Rehabilitation SC Rehabilitation GA 118XK UT WOS:000317060100010 PM 22900501 ER PT J AU Hegarty, JP Ferguson, BJ Zamzow, RM Christ, SE Mazurek, MO Beversdorf, DQ AF Hegarty, John P., II Ferguson, Brad J. Zamzow, Rachel M. Christ, Shawn E. Mazurek, Micah O. Beversdorf, David Q. TI CORTICAL NETWORK FLEXIBILITY DURING ADMINISTRATION OF BETA-ADRENERGIC ANTAGONISTS: AN AUTISM SPECTRUM DISORDER STUDY SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Meeting Abstract CT 20th Annual Meeting of the Cognitive-Neuroscience-Society CY APR 13-16, 2013 CL San Francisco, CA SP Cognit Neuroscience Soc C1 [Hegarty, John P., II; Ferguson, Brad J.; Zamzow, Rachel M.; Christ, Shawn E.; Mazurek, Micah O.; Beversdorf, David Q.] Univ Missouri, Columbia, MO 65211 USA. NR 0 TC 0 Z9 0 PU MIT PRESS PI CAMBRIDGE PA 55 HAYWARD STREET, CAMBRIDGE, MA 02142 USA SN 0898-929X J9 J COGNITIVE NEUROSCI JI J. Cogn. Neurosci. PY 2013 SU S BP 97 EP 98 PG 2 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 118MV UT WOS:000317030500355 ER PT J AU Walenski, M Heldreth, A Hubbell, S McCabe, C Love, T AF Walenski, Matthew Heldreth, Ashlee Hubbell, Stephanie McCabe, Connor Love, Tracy TI IDIOM COMPREHENSION DURING SENTENCE PROCESSING IN CHILDREN WITH AUTISM SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Meeting Abstract CT 20th Annual Meeting of the Cognitive-Neuroscience-Society CY APR 13-16, 2013 CL San Francisco, CA SP Cognit Neuroscience Soc C1 [Walenski, Matthew; Heldreth, Ashlee; Hubbell, Stephanie; Love, Tracy] San Diego State Univ, San Diego, CA 92182 USA. [Walenski, Matthew; McCabe, Connor; Love, Tracy] Univ Calif San Diego, La Jolla, CA 92093 USA. NR 0 TC 0 Z9 0 PU MIT PRESS PI CAMBRIDGE PA 55 HAYWARD STREET, CAMBRIDGE, MA 02142 USA SN 0898-929X J9 J COGNITIVE NEUROSCI JI J. Cogn. Neurosci. PY 2013 SU S BP 108 EP 108 PG 1 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 118MV UT WOS:000317030500405 ER PT J AU Remington, A Swettenham, J Lavie, N AF Remington, Anna Swettenham, John Lavie, Nilli TI INATTENTIONAL BLINDNESS AND PERCEPTUAL CAPACITY IN AUTISM SPECTRUM CONDITION SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Meeting Abstract CT 20th Annual Meeting of the Cognitive-Neuroscience-Society CY APR 13-16, 2013 CL San Francisco, CA SP Cognit Neuroscience Soc C1 [Remington, Anna] Univ Oxford, Oxford OX1 2JD, England. [Swettenham, John; Lavie, Nilli] UCL, London WC1E 6BT, England. NR 0 TC 0 Z9 0 PU MIT PRESS PI CAMBRIDGE PA 55 HAYWARD STREET, CAMBRIDGE, MA 02142 USA SN 0898-929X J9 J COGNITIVE NEUROSCI JI J. Cogn. Neurosci. PY 2013 SU S BP 151 EP 152 PG 2 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 118MV UT WOS:000317030500609 ER PT J AU Remmel, R Van Hecke, AV Stevens, S Carson, AM Dolan, B Karst, JS Schohl, KA Fritz, N Kahne, J McDonald, G Reveles, A Wasisco, J AF Remmel, Rheanna Van Hecke, Amy V. Stevens, Sheryl Carson, Audrey M. Dolan, Bridget Karst, Jeffrey S. Schohl, Kirsten A. Fritz, Noelle Kahne, Jenna McDonald, Grand Reveles, Alexandra Wasisco, Janel TI AN EEG STUDY OF MU FREQUENCY BAND ACTIVITY IN AUTISM SPECTRUM DISORDERS SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Meeting Abstract CT 20th Annual Meeting of the Cognitive-Neuroscience-Society CY APR 13-16, 2013 CL San Francisco, CA SP Cognit Neuroscience Soc C1 [Remmel, Rheanna; Van Hecke, Amy V.; Stevens, Sheryl; Carson, Audrey M.; Dolan, Bridget; Karst, Jeffrey S.; Schohl, Kirsten A.; Fritz, Noelle; Kahne, Jenna; McDonald, Grand; Reveles, Alexandra; Wasisco, Janel] Marquette Univ, Milwaukee, WI 53233 USA. NR 0 TC 0 Z9 0 PU MIT PRESS PI CAMBRIDGE PA 55 HAYWARD STREET, CAMBRIDGE, MA 02142 USA SN 0898-929X J9 J COGNITIVE NEUROSCI JI J. Cogn. Neurosci. PY 2013 SU S BP 159 EP 159 PG 1 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 118MV UT WOS:000317030500644 ER PT J AU Ferguson, B Zamzow, R Reznicek, E Lewis, M Christ, S Stichter, J Beversdorf, D AF Ferguson, Bradley Zamzow, Rachel Reznicek, Emily Lewis, Morgan Christ, Shawn Stichter, Janine Beversdorf, David TI EFFECTS OF BETA-ADRENERGIC ANTAGONISM ON SOCIAL INTERACTION IN AUTISM SPECTRUM DISORDERS SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Meeting Abstract CT 20th Annual Meeting of the Cognitive-Neuroscience-Society CY APR 13-16, 2013 CL San Francisco, CA SP Cognit Neuroscience Soc C1 [Ferguson, Bradley; Zamzow, Rachel; Reznicek, Emily; Lewis, Morgan; Christ, Shawn; Stichter, Janine] Univ Missouri, Columbia, MO 65211 USA. NR 0 TC 0 Z9 0 PU MIT PRESS PI CAMBRIDGE PA 55 HAYWARD STREET, CAMBRIDGE, MA 02142 USA SN 0898-929X J9 J COGNITIVE NEUROSCI JI J. Cogn. Neurosci. PY 2013 SU S BP 217 EP 217 PG 1 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 118MV UT WOS:000317030501207 ER PT J AU Floris, D Chura, L Holt, R Suckling, J Baron-Cohen, S Spencer, M AF Floris, Dorothea Chura, Lindsay Holt, Rosemary Suckling, John Baron-Cohen, Simon Spencer, Michael TI ATYPICAL RIGHTWARD LATERALIZATION OF THE CORPUS CALLOSUM IS PRESENT IN MALES BUT NOT FEMALES WITH AUTISM. SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Meeting Abstract CT 20th Annual Meeting of the Cognitive-Neuroscience-Society CY APR 13-16, 2013 CL San Francisco, CA SP Cognit Neuroscience Soc C1 [Floris, Dorothea; Chura, Lindsay; Holt, Rosemary; Baron-Cohen, Simon; Spencer, Michael] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England. [Suckling, John] Univ Cambridge, Dept Psychiat, Cambridge, England. NR 0 TC 0 Z9 0 PU MIT PRESS PI CAMBRIDGE PA 55 HAYWARD STREET, CAMBRIDGE, MA 02142 USA SN 0898-929X J9 J COGNITIVE NEUROSCI JI J. Cogn. Neurosci. PY 2013 SU S BP 217 EP 217 PG 1 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 118MV UT WOS:000317030501208 ER PT J AU Takarae, Y Vieira, F Rezazadeh, IM Saron, C AF Takarae, Yukari Vieira, Fernanda Rezazadeh, Iman Mohammad Saron, Clifford TI INHIBITORY CONTROL IN AUTISM SPECTRUM DISORDERS SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Meeting Abstract CT 20th Annual Meeting of the Cognitive-Neuroscience-Society CY APR 13-16, 2013 CL San Francisco, CA SP Cognit Neuroscience Soc C1 [Takarae, Yukari; Vieira, Fernanda; Rezazadeh, Iman Mohammad; Saron, Clifford] Univ Calif Davis, Davis, CA 95616 USA. NR 0 TC 0 Z9 0 PU MIT PRESS PI CAMBRIDGE PA 55 HAYWARD STREET, CAMBRIDGE, MA 02142 USA SN 0898-929X J9 J COGNITIVE NEUROSCI JI J. Cogn. Neurosci. PY 2013 SU S BP 219 EP 219 PG 1 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 118MV UT WOS:000317030501216 ER PT J AU Troiani, V Schultz, R AF Troiani, Vanessa Schultz, Robert TI AMYGDALA GUIDES BOTTOM-UP ATTENTION IN TYPICAL DEVELOPMENT BUT NOT IN AUTISM SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Meeting Abstract CT 20th Annual Meeting of the Cognitive-Neuroscience-Society CY APR 13-16, 2013 CL San Francisco, CA SP Cognit Neuroscience Soc C1 [Troiani, Vanessa; Schultz, Robert] Univ Penn, Dept Neurosci, Philadelphia, PA 19104 USA. [Schultz, Robert] Univ Penn, Dept Pediat, Philadelphia, PA 19104 USA. [Schultz, Robert] Univ Penn, Dept Psychiat, Philadelphia, PA 19104 USA. [Troiani, Vanessa; Schultz, Robert] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA USA. NR 0 TC 0 Z9 0 PU MIT PRESS PI CAMBRIDGE PA 55 HAYWARD STREET, CAMBRIDGE, MA 02142 USA SN 0898-929X J9 J COGNITIVE NEUROSCI JI J. Cogn. Neurosci. PY 2013 SU S BP 239 EP 239 PG 1 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 118MV UT WOS:000317030501312 ER PT J AU Owens, E Kopald, B Ryman, S Demopoulos, C Cooper, K Lewine, J AF Owens, Emmaly Kopald, Brandon Ryman, Sephira Demopoulos, Carly Cooper, Karen Lewine, Jeffrey TI ANATOMICAL CORRELATES OF LANGUAGE VARIABILITY IN AUTISM SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Meeting Abstract CT 20th Annual Meeting of the Cognitive-Neuroscience-Society CY APR 13-16, 2013 CL San Francisco, CA SP Cognit Neuroscience Soc C1 [Owens, Emmaly; Ryman, Sephira; Lewine, Jeffrey] Univ New Mexico, Albuquerque, NM 87131 USA. NR 0 TC 0 Z9 0 PU MIT PRESS PI CAMBRIDGE PA 55 HAYWARD STREET, CAMBRIDGE, MA 02142 USA SN 0898-929X J9 J COGNITIVE NEUROSCI JI J. Cogn. Neurosci. PY 2013 SU S BP 251 EP 251 PG 1 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 118MV UT WOS:000317030501369 ER PT J AU Yu, LD Fan, YB Deng, ZZ Huang, D Fan, Y Wang, SP AF Yu, Luodi Fan, Yuebo Deng, Zhizhou Huang, Dan Fan, Yang Wang, Suiping TI SUPERIOR PITCH PERCEPTION IN AUTISM? EVIDENCE OF AUDITORY MISMATCH NEGATIVITY FROM CHINESE SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Meeting Abstract CT 20th Annual Meeting of the Cognitive-Neuroscience-Society CY APR 13-16, 2013 CL San Francisco, CA SP Cognit Neuroscience Soc C1 [Yu, Luodi; Deng, Zhizhou; Fan, Yang; Wang, Suiping] S China Normal Univ, Guangzhou, Guangdong, Peoples R China. [Fan, Yuebo; Huang, Dan] Guangzhou Cana Sch, Guangzhou Rehabil & Res Ctr Children Autism, Guangzhou, Guangdong, Peoples R China. NR 0 TC 0 Z9 0 PU MIT PRESS PI CAMBRIDGE PA 55 HAYWARD STREET, CAMBRIDGE, MA 02142 USA SN 0898-929X J9 J COGNITIVE NEUROSCI JI J. Cogn. Neurosci. PY 2013 SU S BP 252 EP 252 PG 1 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 118MV UT WOS:000317030501376 ER PT J AU Zamzow, RM Johnson, JD Beversdorf, DQ Christ, SE AF Zamzow, Rachel M. Johnson, Jeffrey D. Beversdorf, David Q. Christ, Shawn E. TI RESTING STATE FUNCTIONAL NETWORK ORGANIZATION AND TOPOLOGICAL PROPERTIES IN AUTISM SPECTRUM DISORDER SO JOURNAL OF COGNITIVE NEUROSCIENCE LA English DT Meeting Abstract CT 20th Annual Meeting of the Cognitive-Neuroscience-Society CY APR 13-16, 2013 CL San Francisco, CA SP Cognit Neuroscience Soc C1 [Zamzow, Rachel M.; Johnson, Jeffrey D.; Beversdorf, David Q.; Christ, Shawn E.] Univ Missouri, Columbia, MO 65211 USA. NR 0 TC 0 Z9 0 PU MIT PRESS PI CAMBRIDGE PA 55 HAYWARD STREET, CAMBRIDGE, MA 02142 USA SN 0898-929X J9 J COGNITIVE NEUROSCI JI J. Cogn. Neurosci. PY 2013 SU S BP 260 EP 260 PG 1 WC Neurosciences; Psychology, Experimental SC Neurosciences & Neurology; Psychology GA 118MV UT WOS:000317030501415 ER PT J AU Foster, L Dunn, W Lawson, LM AF Foster, Lauren Dunn, Winnie Lawson, Lisa Mische TI Coaching Mothers of Children with Autism: A Qualitative Study for Occupational Therapy Practice SO PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS LA English DT Article DE Autism; coaching; occupational therapy; qualitative study ID PARENTS; PARTICIPATION; DISABILITIES; STRESS AB The purpose of this study was to understand the perceptions of mothers of children with autism spectrum disorder (ASD) who participated in 10 one-hour coaching sessions. Coaching occurred between an occupational therapist and mother and consisted of information sharing, action, and reflection. Researchers asked 10 mothers six open-ended questions with follow-up probes related to their experiences with coaching. Themes were identified, labeled, and categorized. Themes emerged related to relationships, analysis, reflection, mindfulness, and self-efficacy. Findings indicate that parents perceive the therapist-parent relationship, along with analysis and reflection, as core features that facilitate increased mindfulness and self-efficacy. The findings suggest that how an intervention is provided can lead to positive outcomes, including increased mindfulness and self-efficacy. C1 [Foster, Lauren; Dunn, Winnie; Lawson, Lisa Mische] Univ Kansas, Med Ctr, Sch Hlth Profess, Kansas City, KS 66106 USA. RP Foster, L (reprint author), Univ Kansas, Med Ctr, Sch Hlth Profess, 3033 Robinson,Rainbow Blvd, Kansas City, KS 66106 USA. EM lfoster@kumc.edu FU Kansas Center for Autism Research and Training (KCART) FX This study is part of a larger study funded by Kansas Center for Autism Research and Training (KCART). It was conducted as part of Lauren Foster's completion of her doctoral degree in occupational therapy. 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D., 2011, EARLY CHILDHOOD COAC Schieve LA, 2007, PEDIATRICS, V119, pS114, DOI 10.1542/peds.2006-2089Q Taylor EW, 2007, INT J LIFELONG ED, V26, P173, DOI DOI 10.1080/02601370701219475 NR 26 TC 3 Z9 3 PU INFORMA HEALTHCARE PI LONDON PA TELEPHONE HOUSE, 69-77 PAUL STREET, LONDON EC2A 4LQ, ENGLAND SN 0194-2638 J9 PHYS OCCUP THER PEDI JI Phys. Occup. Ther. Pediatr. PY 2013 VL 33 IS 2 BP 253 EP 263 DI 10.3109/01942638.2012.747581 PG 11 WC Pediatrics; Rehabilitation SC Pediatrics; Rehabilitation GA 124XU UT WOS:000317502900009 PM 23253014 ER PT J AU Posserud, MB Lundervold, AJ AF Posserud, Maj-Britt Lundervold, Astri J. TI Mental Health Services Use Predicted by Number of Mental Health Problems and Gender in a Total Population Study SO SCIENTIFIC WORLD JOURNAL LA English DT Article ID ATTENTION-DEFICIT/HYPERACTIVITY DISORDER; NATIONAL-COMORBIDITY-SURVEY; AUTISM SPECTRUM DISORDERS; DSM-IV DISORDERS; PSYCHIATRIC-DISORDERS; SURVEY REPLICATION; HELP-SEEKING; CHILDREN; ADHD; PREVALENCE AB We examined the relationship between service use and the number of problem areas as reported by parents and teachers on questionnaires among children aged 7-9 years old in the Bergen Child Study, a total population study including more than 9000 children. A problem area was counted as present if the child scored above the 95th percentile on parent and/or teacher questionnaire. A total number of 13 problem areas were included. Odd ratios (ORs) for contact with child and adolescent mental health services (CAMH), school psychology services (SPS), health visiting nurse/physician, and school support were calculated with gender as covariate. The number of symptom areas was highly predictive of service use, showing a dose-response relationship for all services. Children scoring on >= 4 problem areas had a more than hundredfold risk of being in contact with CAMH services compared to children without problems. The mean number of problem areas for children in CAMH and SPS was 6.1 and 4.4 respectively, strongly supporting the ESSENCE model predicting multisymptomatology in children in specialized services. Even after controlling for number of problem areas, boys were twice as likely as girls to be in contact with CAMH, replicating previous findings of female gender being a strong barrier to mental health services. C1 [Posserud, Maj-Britt] Haukeland Hosp, Dept Child & Adolescent Psychiat, N-5021 Bergen, Norway. [Posserud, Maj-Britt; Lundervold, Astri J.] Uni Res, Uni Hlth, Reg Ctr Child & Youth Mental Hlth & Child Welfare, N-5020 Bergen, Norway. [Lundervold, Astri J.] Univ Bergen, Dept Biol & Med Psychol, N-5020 Bergen, Norway. [Lundervold, Astri J.] KG Jebsen Ctr Res Neuropsychiat Disorders, N-5020 Bergen, Norway. RP Posserud, MB (reprint author), Haukeland Hosp, Dept Child & Adolescent Psychiat, N-5021 Bergen, Norway. EM maj-britt.posserud@uni.no FU Western Regional Health Authorities FX The present study was funded by the Western Regional Health Authorities. CR Alegria M, 2004, MED CARE, V42, P447, DOI 10.1097/01.mlr.0000124248.64190.56 American Psychiatric Association, 2011, DIAGN STAT MAN MENT Bussing R, 1998, AM J PUBLIC HEALTH, V88, P880, DOI 10.2105/AJPH.88.6.880 Bussing R, 2003, J BEHAV HEALTH SER R, V30, P176, DOI 10.1007/BF02289806 Carroll L. 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World J. PY 2013 AR 247283 DI 10.1155/2013/247283 PG 8 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 125AY UT WOS:000317511700001 ER PT J AU Rosenkranz, P Charlton, BG AF Rosenkranz, Patrick Charlton, Bruce G. TI Individual Differences in Existential Orientation: Empathizing and Systemizing Explain the Sex Difference in Religious Orientation and Science Acceptance SO ARCHIVE FOR THE PSYCHOLOGY OF RELIGION-ARCHIV FUR RELIGIONSPSYCHOLOGIE LA English DT Article DE atheism; theism; sex difference; existential orientation; empathizing-systemizing ID HIGH-FUNCTIONING AUTISM; GENDER DIFFERENCES; ASPERGER-SYNDROME; 5-FACTOR MODEL; PERSONALITY; SPIRITUALITY; ADULTS; QUOTIENT; BRAIN; MASCULINITY AB On a wide range of measures and across cultures and societies, women tend to be more religious than men. Religious beliefs are associated with evolved social-cognitive mechanisms such as agency detection and theory-of-mind. Women perform better on most of these components of social cognition, suggesting an underlying psychological explanation for these sex differences. The Existential Orientation Scale was developed to extend the measurement of religion to include non-religious beliefs (Study 1). Factor analysis extracted two dimensions: religious orientation and science acceptance. This new scale was used to investigate the hypothesis that the dimensions of empathizing, a measure of social cognition, and systemizing can explain the sex differences in religious orientation (Study 2). The sex differences in both religious orientation and science acceptance disappeared when empathizing and systemizing were entered. This indicates that underlying dimensions of individual differences can explain existential orientation better than being male or female. C1 [Rosenkranz, Patrick; Charlton, Bruce G.] Newcastle Univ, Sch Psychol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England. 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McAdam, Clair Ota, Mitsuhiko Peppe, Sue Cleland, Joanne TI Emotional recognition in autism spectrum conditions from voices and faces SO AUTISM LA English DT Article DE Emotion; autism spectrum conditions; prosody; vocal emotion ID HIGH-FUNCTIONING AUTISM; FACIAL EXPRESSION; ASPERGER-SYNDROME; NORMAL ADULTS; CHILDREN; MIND; PROSODY; PERCEPTION; DISORDERS AB The present study reports on a new vocal emotion recognition task and assesses whether people with autism spectrum conditions (ASC) perform differently from typically developed individuals on tests of emotional identification from both the face and the voice. The new test of vocal emotion contained trials in which the vocal emotion of the sentence were congruent, incongruent, or neutral with respect to the semantic content. We also included a condition in which there was no semantic content (an 'mmm' was uttered using an emotional tone). Performance was compared between 11 adults with ASC and 14 typically developed adults. Identification of emotion from sentences in which the vocal emotion and the meaning of sentence were congruent was similar in people with ASC and a typically developed comparison group. However, the comparison group was more accurate at identifying the emotion in the voice from incongruent and neutral trials, and also from trials with no semantic content. The results of the vocal emotion task were correlated with performance on a face emotion recognition task. In decoding emotion from spoken utterances, individuals with ASC relied more on verbal semantics than did typically developed individuals, presumably as a strategy to compensate for their difficulties in using prosodic cues to recognize emotions. C1 [Stewart, Mary E.; McAdam, Clair] Heriot Watt Univ, Edinburgh EH14 4AS, Midlothian, Scotland. [Ota, Mitsuhiko] Univ Edinburgh, Edinburgh EH8 9AD, Midlothian, Scotland. [Peppe, Sue; Cleland, Joanne] Queen Margaret Univ, Edinburgh EH21 6UU, Midlothian, Scotland. 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To identify predictive variables that are potentially ameliorable by therapeutic intervention, this study investigated self-reported psychosocial quality of life and associated factors for adults with HFASD. All participants (n = 154) had a diagnosis of autism spectrum disorder, were over 18 years of age, lived in the community, and had used one or more support services during the survey period. The results demonstrated that psychosocial quality of life was lower than that of the general Japanese adult population. Environmental factors, such as mother's support and early diagnosis, were associated with better quality of life, and aggressive behaviors were associated with poorer quality of life, while expressive language level at preschool years, a conventional outcome predictor, did not predict quality of life. These results emphasize that quality of life measures should be included as outcome indicators in treating individuals with HFASD. 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Gleason, James Curtin, Carol Lividini, Keith Anderson, Sarah E. Cermak, Sharon A. Maslin, Melissa Must, Aviva TI Comparison of physical activity between children with autism spectrum disorders and typically developing children SO AUTISM LA English DT Article DE accelerometry; children; physical activity; autism spectrum disorders ID YOUTH; WEIGHT; HEALTH AB Regular physical activity is important for promoting health and well-being; however, physical activity behaviors in children with autism spectrum disorders (ASD) have received little attention. We compared physical activity levels among 53 children with ASD and 58 typically developing children aged 3-11 years who participated in the Children's Activity and Meal Patterns Study (CHAMPS). After adjustment for age and sex the amount of time spent daily in moderate and vigorous activity was similar in children with ASD (50.0 minutes/day and typically developing children 57.1 minutes/day). However, parents reported that children with ASD participated in significantly fewer types of physical activities than did typically developing children (6.9 vs. 9.6, p < .0001) and spent less time annually participating in these activities than typically developing children (158 vs. 225 hours per year, p < 0.0001) after adjusting for age and sex. Although both groups of children engaged in similar levels of moderate and vigorous activity as measured by accelerometry, children with ASD engaged in fewer physical activities and for less time according to parental report, suggesting that some of the activity in children with ASD is not captured by standard questionnaire-based measures. C1 [Bandini, Linda G.; Gleason, James; Curtin, Carol; Maslin, Melissa] Univ Massachusetts, Eunice Kennedy Shriver Ctr, Sch Med, Waltham, MA 02452 USA. [Bandini, Linda G.] Boston Univ, Dept Hlth Sci, Boston, MA 02215 USA. [Lividini, Keith] IFPRI, HarvestPlus, Washington, DC USA. [Anderson, Sarah E.] Ohio State Univ, Div Epidemiol, Coll Publ Hlth, Columbus, OH 43210 USA. [Cermak, Sharon A.] Univ So Calif, Div Occupat Sci & Occupat Therapy, Los Angeles, CA USA. [Must, Aviva] Tufts Univ, Sch Med, Dept Publ Hlth & Community Med, Boston, MA 02111 USA. RP Bandini, LG (reprint author), Univ Massachusetts, Eunice Kennedy Shriver Ctr, Sch Med, 200 Trapelo Rd, Waltham, MA 02452 USA. EM linda.bandini@umassmed.edu CR Blanchard LT, 2006, PEDIATRICS, V117, pE1202, DOI 10.1542/peds.2005-2606 CDC, 2011, PHYS ACT EV CHILDR CDC, 2003, NAT HLTH NUTR EX SUR CDC Division of Nutrition Physical Activity and Obesity, 2011, HLTH WEIGHT ASSESSIN Elliott C. D., 1990, DIFFERENTIAL ABILITY Green D, 2009, DEV MED CHILD NEUROL, V51, P311, DOI 10.1111/j.1469-8749.2008.03242.x Janssen I, 2010, INT J BEHAV NUTR PHY, V7, DOI 10.1186/1479-5868-7-40 Kuczmarski R. J., 2002, VITAL HLTH STAT, V11, P1 Must A, 2005, INT J OBESITY, V29, pS84, DOI 10.1038/sj.ijo.0803064 Pan CY, 2008, J AUTISM DEV DISORD, V38, P1292, DOI 10.1007/s10803-007-0518-6 Pan CY, 2006, J AUTISM DEV DISORD, V36, P597, DOI 10.1007/s10803-006-0101-6 Pan CY, 2005, J PHYS ACT HEALTH, V2, P412 Puyau MR, 2004, MED SCI SPORT EXER, V36, P1625, DOI 10.1249/01.MSS.0000139898.30804.60 Rutter M., 2003, AUTISM DIAGNOSTIC IN Sandt DDR, 2005, ADAPT PHYS ACT Q, V22, P146 Schmalz DL, 2007, J ADOLESCENT HEALTH, V41, P559, DOI 10.1016/j.jadohealth.2007.07.001 Spadano JL, 2003, INT J OBESITY, V27, P1528, DOI 10.1038/sj.ijo.0802440 Sparrow SS, 2005, VINELAND ADAPTIVE BE Troiano RP, 2008, MED SCI SPORT EXER, V40, P181, DOI 10.1249/mss.0b013e31815a51b3 Venkatesan S, 2005, ASIA PACIFIC DISABIL, V16, P68 NR 20 TC 2 Z9 2 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1362-3613 J9 AUTISM JI Autism PD JAN PY 2013 VL 17 IS 1 BP 44 EP 54 DI 10.1177/1362361312437416 PG 11 WC Psychology, Developmental SC Psychology GA 118ZM UT WOS:000317066100005 PM 22807562 ER PT J AU Mouridsen, SE Isager, T Rich, B AF Mouridsen, Svend Erik Isager, Torben Rich, Bente TI Diseases of the gastrointestinal tract in individuals diagnosed as children with atypical autism: A Danish register study based on hospital diagnoses SO AUTISM LA English DT Article DE atypical autism; comorbidity; gastrointestinal diseases ID INFANTILE-AUTISM; POPULATION; DISORDERS; SPECTRUM; ASSOCIATION; SYMPTOMS; COHORT; ASDS AB The purpose of this study is to compare the prevalence and types of diseases (International Classification of Mental and Behavioural Disorders, 10th Edition codes K20-K93) relating to the gastrointestinal tract in a clinical sample of 89 individuals diagnosed as children with atypical autism/pervasive developmental disorder not otherwise specified with 258 controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 32.9 years, and mean age at the end of the observation period was 48.5 years. Among the 89 cases with atypical autism, a total of 22 (24.7%) were registered with at least one diagnosis of any disease of the gastrointestinal tract, against 47 of 258 (18.2%) in the comparison group (p = 0.22; odds ratio = 1.5; 95% confidence interval = 0.8-2.6). Without reaching statistical significance, the rate of diseases of the gastrointestinal tract was particularly high (odds ratio = 1.2) in those with intelligence quotient < 70. Overall, people with atypical autism had about the same frequency of gastric, intestinal and hepatic diseases as had controls. C1 [Mouridsen, Svend Erik] Bispebjerg Hosp, DK-2400 Copenhagen, Denmark. [Isager, Torben] Glostrup Univ Hosp, Glostrup, Denmark. RP Mouridsen, SE (reprint author), Bispebjerg Hosp, DK-2400 Copenhagen, Denmark. EM Svend.Erik.Mouridsen@regionh.dk CR American Psychiatric Association, 1994, DIAGN STAT MAN MENT, V4th Amiet C, 2008, BIOL PSYCHIAT, V64, P577, DOI 10.1016/j.biopsych.2008.04.030 Analytical Software, 2003, STATISTIX 8 US MAN Andersen TF, 1999, DAN MED BULL, V46, P263 Baird G, 2006, LANCET, V368, P210, DOI 10.1016/S0140-6736(06)69041-7 Bauman ML, 2010, NEUROTHERAPEUTICS, V7, P320, DOI 10.1016/j.nurt.2010.06.001 Buie T, 2010, PEDIATRICS, V125, pS1, DOI 10.1542/peds.2009-1878C Buie T, 2010, PEDIATRICS, V125, pS19, DOI 10.1542/peds.2009-1878D Erickson CA, 2005, J AUTISM DEV DISORD, V35, P713, DOI 10.1007/s10803-005-0019-4 Fombonne E., 2006, PEDIATRICS, V118, P139 Gorrindo P, 2012, AUTISM RES, V5, P101, DOI 10.1002/aur.237 Ibrahim SH, 2009, PEDIATRICS, V124, P680, DOI 10.1542/peds.2008-2933 Maenner MJ, 2012, J AUTISM DEV DISORD, V42, P1520, DOI 10.1007/s10803-011-1379-6 Mosbech J, 1995, Ugeskr Laeger, V157, P3741 Mouridsen SE, 2010, CHILD CARE HLTH DEV, V36, P437, DOI 10.1111/j.1365-2214.2009.01021.x MOURIDSEN SE, 1993, J AUTISM DEV DISORD, V23, P387, DOI 10.1007/BF01046227 Nickelsen T N, 2001, Ugeskr Laeger, V164, P33 Pedersen CB, 2006, DAN MED BULL, V53, P441 Rutter M, 2005, ACTA PAEDIATR, V94, P2, DOI 10.1080/08035250410023124 Santosh PJ, 2006, EUR CHILD ADOLES PSY, V15, P183, DOI 10.1007/s00787-005-0517-0 Smith RA, 2009, AUTISM, V13, P343, DOI 10.1177/1362361309106418 Taylor B, 2002, BRIT MED J, V324, P393, DOI 10.1136/bmj.324.7334.393 Whitehouse AJO, 2011, DEV MED CHILD NEUROL, V53, P457, DOI 10.1111/j.1469-8749.2011.03915.x World Health Organisation, 1992, ICD 10 CLASS MENT BE World Health Organization (WHO), 1971, INT CLASS DIS MAN IN World Health Organization (WHO), 1978, INT CLASS DIS MENT D NR 26 TC 2 Z9 2 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1362-3613 J9 AUTISM JI Autism PD JAN PY 2013 VL 17 IS 1 BP 55 EP 63 DI 10.1177/1362361312455110 PG 9 WC Psychology, Developmental SC Psychology GA 118ZM UT WOS:000317066100006 PM 22987890 ER PT J AU Barbaro, J Dissanayake, C AF Barbaro, Josephine Dissanayake, Cheryl TI Early markers of autism spectrum disorders in infants and toddlers prospectively identified in the Social Attention and Communication Study SO AUTISM LA English DT Article DE autism spectrum disorders; early markers; red flags; prospective; infants; toddlers; surveillance; screening ID TRAITS QUESTIONNAIRE ESAT; FOLLOW-UP; MODIFIED CHECKLIST; HOME VIDEOTAPES; 2ND YEAR; CHILDREN; AGE; DIAGNOSIS; LIFE; RECOGNITION AB The Social Attention and Communication Study involved the successful implementation of developmental surveillance of the early markers of autism spectrum disorders in a community-based setting. The objective in the current study was to determine the most discriminating and predictive markers of autism spectrum disorders used in the Social Attention and Communication Study at 12, 18 and 24 months of age, so that these could be used to identify children with autism spectrum disorders with greater accuracy. The percentage of 'yes/no' responses for each behavioural marker was compared between children with autistic disorder (n = 39), autism spectrum disorder (n = 50) and developmental and/or language delay (n = 20) from 12 to 24 months, with a logistic regression also conducted at 24 months. Across all ages, the recurring key markers of both autistic disorder and autism spectrum disorder were deficits in eye contact and pointing, and from 18 months, deficits in showing became an important marker. In combination, these behaviours, along with pretend play, were found to be the best group of predictors for a best estimate diagnostic classification of autistic disorder/autism spectrum disorder at 24 months. It is argued that the identified markers should be monitored repeatedly during the second year of life by community health-care professionals. C1 [Barbaro, Josephine; Dissanayake, Cheryl] La Trobe Univ, Bundoora, Vic 3086, Australia. RP Barbaro, J (reprint author), La Trobe Univ, Olga Tennison Autism Res Ctr, Sch Psychol Sci, Bundoora, Vic 3086, Australia. EM j.barbaro@latrobe.edu.au CR ADRIEN JL, 1993, J AM ACAD CHILD PSY, V32, P617, DOI 10.1097/00004583-199305000-00019 Allison C, 2008, J AUTISM DEV DISORD, V38, P1414, DOI 10.1007/s10803-007-0509-7 Baird G, 2000, J AM ACAD CHILD PSY, V39, P694, DOI 10.1097/00004583-200006000-00007 Baranek GT, 1999, J AUTISM DEV DISORD, V29, P213, DOI 10.1023/A:1023080005650 Barbaro J, 2012, J AUTISM DEV DISORD, DOI [10.1007/s10803-10012-11441-z, DOI 10.1007/S10803-10012-11441-Z] Barbaro J, 2010, J DEV BEHAV PEDIATR, V31, P376, DOI 10.1097/DBP.0b013e3181df7f3c Barbaro J, 2011, J PEDIATR NURS, V26, P334, DOI 10.1016/j.pedn.2010.04.007 Barbaro J, 2009, J DEV BEHAV PEDIATR, V30, P447, DOI 10.1097/DBP.0b013e3181ba0f9f BARONCOHEN S, 1992, BRIT J PSYCHIAT, V161, P839, DOI 10.1192/bjp.161.6.839 BARONCOHEN S, 1996, BRIT J PSYCHIAT, V168, P158, DOI DOI 10.1192/BJP.168.2.158 Bryson SE, 2008, J AUTISM DEV DISORD, V38, P731, DOI 10.1007/s10803-007-0440-y Chawarska K, 2009, J CHILD PSYCHOL PSYC, V50, P1235, DOI 10.1111/j.1469-7610.2009.02101.x Chawarska K, 2007, J CHILD PSYCHOL PSYC, V48, P128, DOI 10.1111/j.1469-7610.2006.01685.x Clifford SM, 2008, J AUTISM DEV DISORD, V38, P791, DOI 10.1007/s10803-007-0444-7 Dawson G, 2008, DEV PSYCHOPATHOL, V20, P775, DOI 10.1017/S0954579408000370 Dietz C, 2006, J AUTISM DEV DISORD, V36, P713, DOI 10.1007/s10803-006-0114-1 Howell DC, 2010, STAT METHODS PSYCHOL Interactive Autism Network, 2008, 6 IAN Kleinman JM, 2008, J AUTISM DEV DISORD, V38, P827, DOI 10.1007/s10803-007-0450-9 Landa RJ, 2007, ARCH GEN PSYCHIAT, V64, P853, DOI 10.1001/archpsyc.64.7.853 Landa RJ, 2008, NAT CLIN PRACT NEURO, V4, P138, DOI 10.1038/ncpneuro0731 Le Couteur A, 2008, J AUTISM DEV DISORD, V38, P362, DOI 10.1007/s10803-007-0403-3 Lord C., 1999, AUTISM DIAGNOSTIC OB Lord C, 2004, J CHILD PSYCHOL PSYC, V45, P1 Lord C, 2000, J AUTISM DEV DISORD, V30, P205, DOI 10.1023/A:1005592401947 Lord C, 1995, J CHILD PSYCHOL PSYC, V36, P1365, DOI 10.1111/j.1469-7610.1995.tb01669.x Mandell DS, 2005, PEDIATRICS, V116, P1480, DOI 10.1542/peds.2005-0185 Mitchell S, 2006, J DEV BEHAV PEDIATR, V27, pS69, DOI 10.1097/00004703-200604002-00004 Mullen E, 1995, MULLEN SCALES EARLY Nadig AS, 2007, ARCH PEDIAT ADOL MED, V161, P378, DOI 10.1001/archpedi.161.4.378 Oosterling IJ, 2009, J CHILD PSYCHOL PSYC, V51, P250 Osterling JA, 2002, DEV PSYCHOPATHOL, V14, P239 Paul R, 2008, AUTISM RES, V1, P97, DOI 10.1002/aur.12 Robins DL, 2001, J AUTISM DEV DISORD, V31, P131, DOI 10.1023/A:1010738829569 Rogers SJ, 2008, J CLIN CHILD ADOLESC, V37, P8, DOI 10.1080/15374410701817808 Rogers SJ, 2009, AUTISM RES, V2, P125, DOI 10.1002/aur.81 Stone WL, 1999, J CHILD PSYCHOL PSYC, V40, P219, DOI 10.1017/S0021963098003370 Sullivan M, 2007, J AUTISM DEV DISORD, V37, P37, DOI 10.1007/s10803-006-0335-3 Swinkels SHN, 2006, J AUTISM DEV DISORD, V36, P723, DOI 10.1007/s10803-006-0115-0 Turner LM, 2006, AUTISM, V10, P243, DOI 10.1177/1362361306063296 Watson LR, 2007, J AUTISM DEV DISORD, V37, P49, DOI 10.1007/s10803-006-0334-4 Werner E, 2000, J AUTISM DEV DISORD, V30, P157, DOI 10.1023/A:1005463707029 Werner E, 2005, ARCH GEN PSYCHIAT, V62, P889, DOI 10.1001/archpsyc.62.8.889 Wetherby AM, 2008, AUTISM, V12, P487, DOI 10.1177/1362361308094501 Wetherby AM, 2007, J AUTISM DEV DISORD, V37, P960, DOI 10.1007/s10803-006-0237-4 Young RL, 2003, AUTISM, V7, P125, DOI 10.1177/1362361303007002002 Zwaigenbaum L, 2005, INT J DEV NEUROSCI, V23, P143, DOI 10.1016/j.ijdevneu.2004.05.001 NR 47 TC 12 Z9 12 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1362-3613 EI 1461-7005 J9 AUTISM JI Autism PD JAN PY 2013 VL 17 IS 1 BP 64 EP 86 DI 10.1177/1362361312442597 PG 23 WC Psychology, Developmental SC Psychology GA 118ZM UT WOS:000317066100007 PM 22735682 ER PT J AU Kamp-Becker, I Ghahreman, M Heinzel-Gutenbrunner, M Peters, M Remschmidt, H Becker, K AF Kamp-Becker, Inge Ghahreman, Mardjan Heinzel-Gutenbrunner, Monika Peters, Mira Remschmidt, Helmut Becker, Katja TI Evaluation of the revised algorithm of Autism Diagnostic Observation Schedule (ADOS) in the diagnostic investigation of high-functioning children and adolescents with autism spectrum disorders SO AUTISM LA English DT Article DE ADOS; diagnosis of autism spectrum disorder; Asperger's syndrome; high-functioning autism; sensitivity; specificity ID ADI-R; ASPERGER-SYNDROME; LANGUAGE; VALIDITY; ADULTS; INSTRUMENTS; INFORMATION; IMPAIRMENT; ABILITY AB The Autism Diagnostic Observation Schedule (ADOS) is a semi-structured, standardized assessment designed for use in diagnostic evaluation of individuals with suspected autism spectrum disorder (ASD). The ADOS has been effective in categorizing children who definitely have autism or not, but has lower specificity and sometimes sensitivity for distinguishing children with milder ASDs. Revised ADOS algorithms have been recently developed. The goals of this study were to analyze the predictive validity of different ADOS algorithms for module 3, in particular for high-functioning autism spectrum disorder. The participants were 252 children and adolescents aged between four and 16 years, with a full-scale IQ above 70 (126 with a diagnosis of ASD, 126 with a heterogeneous non-spectrum diagnosis). As a main finding, sensitivity was substantially higher for the newly developed 'revised algorithm', both for autism versus non-spectrum, as well as for the broader ASD versus non-spectrum, using the higher cut-off. The strength of the original algorithm lies in its positive predictive power, while the revised algorithm shows weaknesses in specificity for non-autism ASD. As the ADOS is valid and reliable even for higher functioning ASD, the findings of the present study have been used to make recommendations regarding the best use of ADOS algorithms in a high-functioning sample. C1 [Kamp-Becker, Inge; Ghahreman, Mardjan; Heinzel-Gutenbrunner, Monika; Peters, Mira; Remschmidt, Helmut; Becker, Katja] Univ Marburg, Dept Child & Adolescent Psychiat, D-35033 Marburg, Germany. RP Kamp-Becker, I (reprint author), Univ Marburg, Dept Child & Adolescent Psychiat, D-35033 Marburg, Germany. 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Taylor, Julie Lounds TI Outcomes in adults with autism spectrum disorders: a historical perspective SO AUTISM LA English DT Article DE autism spectrum disorders; follow-up; outcome; adulthood ID QUALITY-OF-LIFE; FOLLOW-UP; ASPERGER-SYNDROME; YOUNG-ADULTS; HIGH-SCHOOL; CHILDREN; INDIVIDUALS; POPULATION; TRANSITION; CHILDHOOD AB In this review, we examine the ways in which researchers have defined successful adult outcomes for individuals with autism spectrum disorders (ASDs) from the first systematic follow-up reports to the present day. The earliest outcome studies used vague and unreliable outcome criteria, and institutionalization was a common marker of poor outcomes. In the past decade, researchers have begun to standardize the measurement of adult outcomes with specific criteria based on friendships, employment, and living arrangements. Although nearly all of these studies have agreed that the majority of adults with ASD have poor outcomes, evolving concepts of what it means to be an adult could have an impact on outcomes measured. For example, some researchers have suggested that taking into account the person-environment fit could reveal a more optimistic picture of outcomes for these adults. Suggestions for future research are discussed. C1 [Henninger, Natalie A.] Vanderbilt Univ, Nashville, TN USA. [Henninger, Natalie A.; Taylor, Julie Lounds] Vanderbilt Kennedy Ctr, Nashville, TN 37203 USA. [Taylor, Julie Lounds] Vanderbilt Univ, Vanderbilt Kennedy Ctr, Sch Med, Nashville, TN USA. [Taylor, Julie Lounds] Monroe Carell Jr Childrens Hosp Vanderbilt, Nashville, TN USA. RP Taylor, JL (reprint author), Vanderbilt Kennedy Ctr, PMB 40-230 Appleton Pl, Nashville, TN 37203 USA. 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RP Falter, CM (reprint author), Univ Groningen, Dept Neuropsychol, Groningen, Netherlands. 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However, assessments can fail to address the diverse range of problems that patients have experienced. The current study applied an early symptomatic syndromes eliciting neurodevelopmental clinical examinations (ESSENCE) framework to explore retrospectively reported childhood developmental and behavioral problems. It examined if adult ASD and ADHD patients would show problems outside those reflected in the respective diagnostic criteria, and also if these patient groups would show more extensive childhood problems than other psychiatric patients. Parents of adults with ADHD (n = 130), ASD (n = 57), coexisting ADHD and ASD (n = 38), and other psychiatric disorders (n = 56) reported on a range of childhood problems. Descriptions of the ADHD, ASD, and ADHD+ASD groups reflected greater impairment than descriptions for patients with other psychiatric disorders in most problem areas. 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The aim of this paper is to review the current evidence base of neuropsychological traits in people with eating disorders. Evidence of difficulties in set shifting, weak central coherence, emotional processing difficulties, and altered reward sensitivity is presented for people both in the acute and recovered phase of the illness. These traits are also seen in first degree relatives. At present there is limited research linking these neuropsychological traits with genetic and neuroanatomical measures. In addition to improving the taxonomy of eating disorders, neuropsychological traits may be of value in producing targeted treatments. C1 [Kanakam, Natalie; Treasure, Janet] Kings Coll London, Inst Psychiat, Sect Eating Disorders, London SE1 9RT, England. RP Kanakam, N (reprint author), Kings Coll London, Dept Psychol Med, Guys Hosp, 5th Floor Bermondsey Wing, London SE1 9RT, England. 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TI Neurotransmitters, Psychotropic Drugs and Microglia: Clinical Implications for Psychiatry SO CURRENT MEDICINAL CHEMISTRY LA English DT Article DE Microglia; antipsychotics; antidepressants; antiepileptics; minocycline; BDNF; dopamine; serotonin; norepinephrine; schizophrenia; depression; epilepsy; psychiatry ID METABOTROPIC GLUTAMATE RECEPTORS; NECROSIS-FACTOR-ALPHA; NICOTINIC ACETYLCHOLINE-RECEPTOR; PROTECTS DOPAMINERGIC-NEURONS; MAJOR DEPRESSIVE DISORDER; NITRIC-OXIDE PRODUCTION; AMYLOID-BETA PEPTIDE; RISK MENTAL STATE; VALPROIC ACID; ALZHEIMERS-DISEASE AB Psychiatric disorders have long and dominantly been regarded to be induced by disturbances of neuronal networks including synapses and neurotransmitters. Thus, the effects of psychotropic drugs such as antipsychotics and antidepressants have been understood to modulate synaptic regulation via receptors and transporters of neurotransmitters such as dopamine and serotonin. Recently, microglia, immunological/inflammatory cells in the brain, have been indicated to have positive links to psychiatric disorders. Positron emission tomography (PET) imaging and postmortem studies have revealed microglial activation in the brain of neuropsychiatric disorders such as schizophrenia, depression and autism. Animal models of neuropsychiatric disorders have revealed the underlying microglial pathologies. In addition, various psychotropic drugs have been suggested to have direct effects on microglia. Until now, the relationship between microglia, neurotransmitters and psychiatric disorders has not been well understood. Therefore, in this review, at first, we summarize recent findings of interaction between microglia and neurotransmitters such as dopamine, serotonin, norepinephrine, acetylcholine and glutamate. Next, we introduce up-to-date knowledge of the effects of psychotropic drugs such as antipsychotics, antidepressants and antiepileptics on microglial modulation. Finally, we propose the possibility that modulating microglia may be a key target in the treatment of various psychiatric disorders. Further investigations and clinical trials should be conducted to clarify this perspective, using animal in vivo studies and imaging studies with human subjects. C1 [Kato, T. A.; Yamauchi, Y.; Horikawa, H.; Hayakawa, K.; Kanba, S.] Kyushu Univ, Grad Sch Med Sci, Dept Neuropsychiat, Fukuoka 8128582, Japan. [Kato, T. A.; Utsumi, H.] Kyushu Univ, Innovat Ctr Med Redox Nav, Fukuoka 8128582, Japan. [Monji, A.; Mizoguchi, Y.; Seki, Y.] Saga Univ, Fac Med, Dept Psychiat, Saga 8498501, Japan. RP Kato, TA (reprint author), Kyushu Univ, Grad Sch Med Sci, Dept Neuropsychiat, Higashi Ku, 3-1-1 Maidashi, Fukuoka 8128582, Japan. EM takahiro@npsych.med.kyushu-u.ac.jp; amonji@hf.rim.or.jp FU Japan Society for the Promotion of Science (JSPS) FX This work was financially supported by Grant-in-Aid from the Japan Society for the Promotion of Science (JSPS) to TAK and SK. 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EM gdawson@autismspeaks.org CR Ashwood P, 2011, BRAIN BEHAV IMMUN, V25, P40, DOI 10.1016/j.bbi.2010.08.003 Autism and Developmental Disabilities Monitoring Network Surveillance Principal Investigators, 2012, MMWR SURVEILL SUMM, V61, P1 Courchesne E, 2011, BRAIN RES, V1380, P138, DOI 10.1016/j.brainres.2010.09.101 Ecker C, 2013, JAMA PSYCHIAT, V70, P59, DOI 10.1001/jamapsychiatry.2013.265 Hallmayer J, 2011, ARCH GEN PSYCHIAT, V68, P1095, DOI 10.1001/archgenpsychiatry.2011.76 Interagency Autism Coordinating Committee US Department of Health & Human Services, 2012, IACC OARC AUT SPECTR Knapp M, 2012, 2012 AUT SUMM INV OU Morgan JT, 2010, BIOL PSYCHIAT, V68, P368, DOI 10.1016/j.biopsych.2010.05.024 PIVEN J, 1995, AM J PSYCHIAT, V152, P1145 Suzuki K, 2013, JAMA PSYCHIAT, V70, P49, DOI 10.1001/jamapsychiatry.2013.272 Volk HE, 2013, JAMA PSYCHIAT, V70, P71, DOI 10.1001/jamapsychiatry.2013.266 Volk HE, 2011, ENVIRON HEALTH PERSP, V119, P873, DOI 10.1289/ehp.1002835 NR 12 TC 9 Z9 9 PU AMER MEDICAL ASSOC PI CHICAGO PA 515 N STATE ST, CHICAGO, IL 60654-0946 USA SN 2168-622X J9 JAMA PSYCHIAT JI JAMA Psychiatry PD JAN PY 2013 VL 70 IS 1 BP 9 EP 10 PG 2 WC Psychiatry SC Psychiatry GA 114GM UT WOS:000316729100003 PM 23184000 ER PT J AU Power, RA Kyaga, S Uher, R MacCabe, JH Langstrom, N Landen, M McGuffin, P Lewis, CM Lichtenstein, P Svensson, AC AF Power, Robert A. Kyaga, Simon Uher, Rudolf MacCabe, James H. Langstrom, Niklas Landen, Mikael McGuffin, Peter Lewis, Cathryn M. Lichtenstein, Paul Svensson, Anna C. TI Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings SO JAMA PSYCHIATRY LA English DT Article ID GENOME-WIDE ASSOCIATION; ADVANCING PATERNAL AGE; MENTAL-DISORDER; MOOD DISORDERS; VIOLENT CRIME; FERTILITY; POPULATION; PSYCHOSIS; SWEDEN; COHORT AB Context: It is unknown how genetic variants conferring liability to psychiatric disorders survive in the population despite strong negative selection. However, this is key to understanding their etiology and designing studies to identify risk variants. Objectives: To examine the reproductive fitness of patients with schizophrenia and other psychiatric disorders vs their unaffected siblings and to evaluate the level of selection on causal genetic variants. Design: We measured the fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa, or substance abuse and their unaffected siblings compared with the general population. Setting: Population databases in Sweden, including the Multi-Generation Register and the Swedish Hospital Discharge Register. Participants: In total, 2.3million individuals among the 1950 to 1970 birth cohort in Sweden. Main Outcome Measures: Fertility ratio (FR), reflecting the mean number of children compared with that of the general population, accounting for age, sex, family size, and affected status. Results: Except for women with depression, affected patients had significantly fewer children (FR range for those with psychiatric disorder, 0.23-0.93; P < 10(-10)). This reduction was consistently greater among men than women, suggesting that male fitness was particularly sensitive. Although sisters of patients with schizophrenia and bipolar disorder had increased fecundity (FR range, 1.02-1.03; P <.01), this was too small on its own to counterbalance the reduced fitness of affected patients. Brothers of patients with schizophrenia and autism showed reduced fecundity (FR range, 0.94-0.97; P < .001). Siblings of patients with depression and substance abuse had significantly increased fecundity (FR range, 1.01-1.05; P < 10(-10)). In the case of depression, this more than compensated for the lower fecundity of affected individuals. Conclusions: Our results suggest that strong selection exists against schizophrenia, autism, and anorexia nervosa and that these variants may be maintained by new mutations or an as-yet unknown mechanism. Bipolar disorder did not seem to be under strong negative selection. Vulnerability to depression, and perhaps substance abuse, may be preserved by balancing selection, suggesting the involvement of common genetic variants in ways that depend on other genes and on environment. C1 [Power, Robert A.; Uher, Rudolf] Kings Coll London, Inst Psychiat, Social Genet & Dev Ctr, London SE5 8AF, England. [MacCabe, James H.; McGuffin, Peter; Lewis, Cathryn M.] Kings Coll London, Dept Psychosis Studies, London SE5 8AF, England. [Kyaga, Simon; Lichtenstein, Paul] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden. [Svensson, Anna C.] Karolinska Inst, Dept Publ Hlth Sci, Stockholm, Sweden. [Langstrom, Niklas] Karolinska Inst, Ctr Violence Prevent, Stockholm, Sweden. [Svensson, Anna C.] Karolinska Inst, Div Publ Hlth Epidemiol, Stockholm, Sweden. [Landen, Mikael] Gothenburg Univ, Sahlgrenska Acad, Inst Neurosci & Physiol, Gothenburg, Sweden. RP Power, RA (reprint author), Kings Coll London, Inst Psychiat, Social Genet & Dev Ctr, De Creispigny Pk, London SE5 8AF, England. EM robert.r.power@kcl.ac.uk RI Power, Robert/B-3482-2012; McGuffin, Peter/A-1565-2012; Uher, Rudolf/A-5477-2008; Lewis, Cathryn/A-5225-2010 OI McGuffin, Peter/0000-0002-9888-2907; Uher, Rudolf/0000-0002-2998-0546; Lewis, Cathryn/0000-0002-8249-8476 FU Medical Research Council of the United Kingdom FX This study was supported by the Medical Research Council of the United Kingdom (Mr Power). 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Objective: To prospectively investigate the emergence of autistic-like traits in unaffected (no ASD diagnosis) infant siblings of probands diagnosed as having ASD. Design: Two groups of children unaffected with ASD were assessed prospectively-siblings of probands diagnosed as having ASD (high risk [HR]) and control subjects with no family history of ASD (low risk [LR]). Scores on a measure of autistic-like traits at 12 months of age were used in a cluster analysis of the entire sample. Setting: A prospective study of infant siblings of probands with ASD from 3 diagnostic centers in Canada. Participants: The study included 170 HR and 90 LR children, none of whom was diagnosed as having ASD at age 3 years. Main Outcome Measures: The Autism Observation Scale for Infants was used to measure autistic-like traits and derive clusters at 12 months of age. Clusters were compared on ASD symptoms, cognitive abilities, and social- emotional difficulties at age 3 years. Results: Two clusters were identified. Cluster 1 (n= 37; 14.2% of total sample) had significantly higher levels of autistic-like traits compared with cluster 2. Within cluster 1, 33 children came from the siblings (19.4% of HR group) and only 4 came from the control subjects (4.5% of LR group). At age 3 years, children from cluster 1 had more social-communication impairment (effect size > 0.70; P < .001), lower cognitive abilities (effect size=-0.59; P < .005), and more internalizing problems (effect size = 0.55; P=. 01). Compared with control subjects, HR siblings had a relative risk of 4.3 (95% CI, 1.6-11.9) for membership in cluster 1. Conclusions: Study findings suggest the emergence of autistic-like traits resembling a broader autism phenotype by 12 months of age in approximately 19% of HR siblings who did not meet ASD diagnostic criteria at age 3 years. C1 [Georgiades, Stelios; Szatmari, Peter] McMaster Univ, Offord Ctr Child Studies, Hamilton, ON L8S 4K1, Canada. [Georgiades, Stelios; Szatmari, Peter] McMaster Univ, McMaster Childrens Hosp, Hamilton, ON L8S 4K1, Canada. [Brian, Jessica; Roberts, Wendy] Bloorview Res Inst, Toronto, ON, Canada. [Brian, Jessica; Roberts, Wendy] Univ Toronto, Toronto, ON M5S 1A1, Canada. [Vaillancourt, Tracy] Univ Ottawa, Ottawa, ON K1N 6N5, Canada. [Roncadin, Caroline] Peel Childrens Ctr, Toronto, ON, Canada. [Zwaigenbaum, Lonnie] Univ Alberta, Edmonton, AB T6G 2M7, Canada. [Bryson, Susan; Smith, Isabel] Dalhousie Univ, IWK Hlth Ctr, Halifax, NS B3H 3J5, Canada. [Garon, Nancy] Mt Allison Univ, Sackville, NB, Canada. RP Szatmari, P (reprint author), McMaster Univ, Offord Ctr Child Studies, Chedoke Site,1280 Main St W,Patterson Bldg, Hamilton, ON L8S 4K1, Canada. EM szatmar@mcmaster.ca RI Vaillancourt, Tracy/F-8949-2015 FU Canadian Institutes of Health Research; Autism Speaks; NeuroDevNet; McMaster Children's Hospital; Stollery Children's Hospital Foundation Chair in Autism; Alberta Innovates-Health Solutions FX This study was supported by the Canadian Institutes of Health Research, Autism Speaks, and NeuroDevNet. Mr Georgiades' work is supported by an Autism Research Training fellowship from the Canadian Institutes of Health Research. Dr Szatmari's work is supported by McMaster Children's Hospital. Dr Zwaigenbaum's work is supported by the Stollery Children's Hospital Foundation Chair in Autism and a Health Scholar Award from Alberta Innovates-Health Solutions. 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Iwata, Yasuhide Tsujii, Masatsugu Sugiyama, Toshirou Mori, Norio TI Microglial Activation in Young Adults With Autism Spectrum Disorder SO JAMA PSYCHIATRY LA English DT Article ID OBSESSIVE COMPULSIVE SCALE; HIGH-FUNCTIONING AUTISM; CENTRAL-NERVOUS-SYSTEM; IN-VIVO; IMMUNE-RESPONSE; BRAIN; CHILDREN; CELLS; SERUM; MODEL AB Context: A growing body of evidence suggests that aberrant immunologic systems underlie the pathophysiologic characteristics of autism spectrum disorder (ASD). However, to our knowledge, no information is available on the patterns of distribution of microglial activation in the brain in ASD. Objectives: To identify brain regions associated with excessively activated microglia in the whole brain, and to examine similarities in the pattern of distribution of activated microglia in subjects with ASD and control subjects. Design: Case-control study using positron emission tomography and a radiotracer for microglia-[C-11](R)-(1[ 2-chrorophynyl]-N-methyl-N-[1-methylpropyl]-3 isoquinoline carboxamide) ([C-11](R)-PK11195). Setting: Subjects recruited from the community. Participants: Twenty men with ASD (age range, 18-31 years; mean [SD] IQ, 95.9 [16.7]) and 20 age-and IQ-matched healthy men as controls. Diagnosis of ASD was made in accordance with the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised. Main Outcome Measures: Regional brain [11C](R)PK11195 binding potential as a representative measure of microglial activation. Results: The [11C](R)-PK11195 binding potential values were significantly higher in multiple brain regions in young adults with ASD compared with those of controls (P <.05, corrected). Brain regions with increased binding potentials included the cerebellum, midbrain, pons, fusiform gyri, and the anterior cingulate and orbitofrontal cortices. The most prominent increase was observed in the cerebellum. The pattern of distribution of [11C](R)PK11195 binding potential values in these brain regions of ASD and control subjects was similar, whereas the magnitude of the [11C](R)-PK11195 binding potential in the ASD group was greater than that of controls in all regions. Conclusions: Our results indicate excessive microglial activation in multiple brain regions in young adult subjects with ASD. The similar distribution pattern of regional microglial activity in the ASD and control groups may indicate augmented but not altered microglial activation in the brain in the subjects with ASD. C1 [Suzuki, Katsuaki; Sugihara, Genichi; Omata, Kei; Matsumoto, Kaori; Tsuchiya, Kenji J.; Mori, Norio] Hamamatsu Univ Sch Med, Res Ctr Child Mental Dev, Hamamatsu, Shizuoka 4313192, Japan. [Suzuki, Katsuaki; Ouchi, Yasuomi; Tsuchiya, Kenji J.] Hamamatsu Univ Sch Med, United Grad Sch Child Dev, Hamamatsu, Shizuoka 4313192, Japan. [Ouchi, Yasuomi] Hamamatsu Univ Sch Med, Mol Imaging Frontier Res Ctr, Hamamatsu, Shizuoka 4313192, Japan. [Nakamura, Kazuhiko; Takebayashi, Kiyokazu; Iwata, Yasuhide; Mori, Norio] Hamamatsu Univ Sch Med, Dept Psychiat & Neurol, Hamamatsu, Shizuoka 4313192, Japan. [Sugiyama, Toshirou] Hamamatsu Univ Sch Med, Dept Child & Adolescent Psychiat, Hamamatsu, Shizuoka 4313192, Japan. [Ouchi, Yasuomi; Futatsubashi, Masami] Hamamatsu Med Ctr, Positron Med Ctr, Hamamatsu, Shizuoka, Japan. [Yoshihara, Yujiro] Koujin Hosp, Nagoya, Aichi, Japan. [Tsujii, Masatsugu] Chukyo Univ, Fac Sociol, Toyota, Japan. RP Mori, N (reprint author), Hamamatsu Univ Sch Med, Dept Psychiat & Neurol, Higashi Ku, 1-20-1 Handayama, Hamamatsu, Shizuoka 4313192, Japan. EM morin@hama-med.ac.jp FU Strategic Research Program for Brain Sciences; Ministry of Education, Culture, Sports, Science, and Technology, Japan; Research on Brain Science Funds from the Ministry of Health, Labour, and Welfare, Japan. FX This work was supported by the Strategic Research Program for Brain Sciences (" Integrated research on neuropsychiatric disorders") and a Grant-in- Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology, Japan, and by the Research on Brain Science Funds from the Ministry of Health, Labour, and Welfare, Japan. 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Lai, Meng-Chuan Suckling, John Palaniyappan, Lena Daly, Eileen Murphy, Clodagh M. Williams, Steven C. Bullmore, Edward T. Baron-Cohen, Simon Brammer, Michael Murphy, Declan G. M. CA MRC AIMS Consortium TI Brain Surface Anatomy in Adults With Autism SO JAMA PSYCHIATRY LA English DT Article ID VOXEL-BASED MORPHOMETRY; HIGH-FUNCTIONING AUTISM; MAGNETIC-RESONANCE IMAGES; HUMAN CEREBRAL-CORTEX; CORTICAL THICKNESS; SPECTRUM DISORDER; ASPERGER-SYNDROME; CHILDHOOD AUTISM; PROGENITOR CELLS; REVISED VERSION AB Context: Neuroimaging studies of brain anatomy in autism spectrum disorder (ASD) have mostly been based on measures of cortical volume (CV). However, CV is a product of 2 distinct parameters, cortical thickness (CT) and surface area (SA), that in turn have distinct genetic and developmental origins. Objective: To investigate regional differences in CV, SA, and CT as well as their relationship in a large and well-characterized sample of men with ASD and matched controls. Design: Multicenter case-control design using quantitative magnetic resonance imaging. Setting: Medical Research Council UK Autism Imaging Multicentre Study. Participants: A total of 168 men, 84 diagnosed as having ASD and 84 controls who did not differ significantly in mean (SD) age (26 [7] years vs 28 [6] years, respectively) or full-scale IQ (110 [14] vs 114 [12], respectively). Main Outcome Measures: Between-group differences in CV, SA, and CT investigated using a spatially unbiased vertex-based approach; the degree of spatial over-lap between the differences in CT and SA; and their relative contribution to differences in regional CV. Results: Individuals with ASD differed from controls in all 3 parameters. These mainly consisted of significantly increased CT within frontal lobe regions and reduced SA in the orbitofrontal cortex and posterior cingulum. These differences in CT and SA were paralleled by commensurate differences in CV. The spatially distributed patterns for CT and SA were largely nonoverlapping and shared only about 3% of all significantly different locations on the cerebral surface. Conclusions: Individuals with ASD have significant differences in CV, but these may be underpinned by (separable) variations in its 2 components, CT and SA. This is of importance because both measures result from distinct developmental pathways that are likely modulated by different neurobiological mechanisms. This finding may provide novel targets for future studies into the etiology of the condition and a new way to fractionate the disorder. C1 [Ecker, Christine; Ginestet, Cedric; Feng, Yue; Johnston, Patrick; Daly, Eileen; Murphy, Clodagh M.; Williams, Steven C.; Brammer, Michael; Murphy, Declan G. M.] Kings Coll London, Dept Forens & Neurodev Sci, Inst Psychiat, London SE5 8AF, England. [Lombardo, Michael V.; Lai, Meng-Chuan; Baron-Cohen, Simon] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England. [Suckling, John; Williams, Steven C.] Univ Cambridge, Dept Psychiat, Brain Mapping Unit, Cambridge, England. [Palaniyappan, Lena] Univ Nottingham, Div Psychiat, Nottingham NG7 2RD, England. RP Ecker, C (reprint author), Kings Coll London, Dept Forens & Neurodev Sci, Inst Psychiat, PO50,De Crespigny Pk, London SE5 8AF, England. EM christine.ecker@kcl.ac.uk RI Bullmore, Edward/C-1706-2012; Williams, Steve/D-6979-2011; Ecker, Christine/E-5194-2010; Bolton, Patrick/E-8501-2010; Bailey, Anthony/J-2860-2014 OI Bullmore, Edward/0000-0002-8955-8283; Bolton, Patrick/0000-0002-5270-6262; Bailey, Anthony/0000-0003-4257-972X FU Medical Research Council; AIMS Consortium [G0400061]; NIHR; South London & Maudsley NHS Foundation Trust FX The MRC AIMS Consortium is a collaboration of autism research centers in the United Kingdom including the Institute of Psychiatry, King's College London; the Autism Research Centre, University of Cambridge; and the Autism Research Group, University of Oxford. It is funded by the Medical Research Council and headed by the Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry. This work was supported by the AIMS Consortium through grant G0400061 from the Medical Research Council and by the NIHR Biomedical Research Centre for Mental Health at King's College London, Institute of Psychiatry, and South London & Maudsley NHS Foundation Trust. Scanning took place in 3 centers (London, Oxford, and Cambridge; local principal investigators were Drs Bailey, Baron-Cohen, Bullmore, and D.G.M. Murphy). 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Lurmann, Fred Penfold, Bryan Hertz-Picciotto, Irva McConnell, Rob TI Traffic-Related Air Pollution, Particulate Matter, and Autism SO JAMA PSYCHIATRY LA English DT Article ID ULTRAFINE PARTICLES; SPECTRUM DISORDERS; PRENATAL EXPOSURE; MAJOR HIGHWAY; CHILDREN; BRAIN; NANOPARTICLES; INFLAMMATION; ENHANCEMENT; POLLUTANTS AB Context: Autism is a heterogeneous disorder with genetic and environmental factors likely contributing to its origins. Examination of hazardous pollutants has suggested the importance of air toxics in the etiology of autism, yet little research has examined its association with local levels of air pollution using residence-specific exposure assignments. Objective: To examine the relationship between traffic-related air pollution, air quality, and autism. Design: This population-based case-control study includes data obtained from children with autism and control children with typical development who were enrolled in the Childhood Autism Risks from Genetics and the Environment study in California. The mother's address from the birth certificate and addresses reported from a residential history questionnaire were used to estimate exposure for each trimester of pregnancy and first year of life. Traffic-related air pollution was assigned to each location using a line-source air-quality dispersion model. Regional air pollutant measures were based on the Environmental Protection Agency's Air Quality System data. Logistic regression models compared estimated and measured pollutant levels for children with autism and for control children with typical development. Setting: Case-control study from California. Participants: A total of 279 children with autism and a total of 245 control children with typical development. Main Outcome Measures: Crude and multivariable adjusted odds ratios (AORs) for autism. Results: Children with autism were more likely to live at residences that had the highest quartile of exposure to traffic-related air pollution, during gestation (AOR, 1.98 [95% CI, 1.20-3.31]) and during the first year of life (AOR, 3.10 [95% CI, 1.76-5.57]), compared with control children. Regional exposure measures of nitrogen dioxide and particulate matter less than 2.5 and 10 mu m in diameter (PM2.5 and PM10) were also associated with autism during gestation (exposure to nitrogen dioxide: AOR, 1.81 [95% CI, 1.37-3.09]; exposure to PM2.5: AOR, 2.08 [95% CI, 1.93-2.25]; exposure to PM10: AOR, 2.17 [95% CI, 1.49-3.16) and during the first year of life (exposure to nitrogen dioxide: AOR, 2.06 [95% CI, 1.37-3.09]; exposure to PM2.5: AOR, 2.12 [95% CI, 1.45-3.10]; exposure to PM10: AOR, 2.14 [95% CI, 1.46-3.12]). All regional pollutant estimates were scaled to twice the standard deviation of the distribution for all pregnancy estimates. Conclusions: Exposure to traffic-related air pollution, nitrogen dioxide, PM2.5, and PM10 during pregnancy and during the first year of life was associated with autism. Further epidemiological and toxicological examinations of likely biological pathways will help determine whether these associations are causal. C1 [Volk, Heather E.; McConnell, Rob] Univ So Calif, Dept Prevent Med, Los Angeles, CA 90089 USA. [Volk, Heather E.] Univ So Calif, Dept Pediat, Los Angeles, CA 90089 USA. [Volk, Heather E.; McConnell, Rob] Univ So Calif, Keck Sch Med, Los Angeles, CA 90089 USA. [Volk, Heather E.] Univ So Calif, Zilkha Neurogenet Inst, Los Angeles, CA 90089 USA. [Volk, Heather E.] Univ So Calif, Childrens Hosp Los Angeles, Los Angeles, CA 90089 USA. [Hertz-Picciotto, Irva] Univ Calif Davis, Dept Publ Hlth Sci, Davis, CA 95616 USA. [Lurmann, Fred; Penfold, Bryan] Sonoma Technol Inc, Petaluma, CA USA. RP Volk, HE (reprint author), Univ So Calif, Dept Prevent Med, 2001 N Soto St,MC 9237, Los Angeles, CA 90089 USA. EM hvolk@usc.edu FU National Institute of Environmental Health Sciences [ES019002, ES013578, ES007048, ES11269, ES015359]; EPA [Star-R-823392, Star-R-833292]; MIND Institute's matching funds; pilot grant program FX This work was supported by National Institute of Environmental Health Sciences grants ES019002, ES013578, ES007048, ES11269, ES015359, EPA Star-R-823392, and EPA Star-R-833292 and by the MIND Institute's matching funds and pilot grant program. 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However, in the autistic population without intellectual disability, the prevalence of epilepsy is also much greater than in the general population. The special health needs in children having autism spectrum disorder without intellectual disability, namely those with high-functioning autism spectrum disorder have become recognized in recent years, yet comorbid neuropsychiatric symptoms such as anxiety, attention-deficit/hyperactivity disorder, and epilepsy still sometimes remain undiagnosed and untreated. Heightened awareness of such comorbidities will help these children to access appropriate treatment. Whether the epilepsy associated with high-functioning autism spectrum disorder is the same or different from that associated with intellectual disability, and whether the autistic profile associated with epilepsy in high-functioning autism spectrum disorder is the same or different from that without epilepsy, should be answered by future studies. C1 [Kamio, Yoko; Moriwaki, Aiko; Inokuchi, Eiko] Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Tokyo, Japan. RP Kamio, Y (reprint author), Natl Ctr Neurol & Psychiat, Natl Inst Mental Hlth, Dept Child & Adolescent Mental Hlth, 4-1-1 Ogawa Higashi, Kodaira, Tokyo 1878553, Japan. EM kamio@ncnp.go.jp FU Japanese Ministry of Health, Labor, and Welfare [H19-KOKORO-006, H20-KOKORO-004] FX This work was supported by grants [H19-KOKORO-006 and H20-KOKORO-004] from the Japanese Ministry of Health, Labor, and Welfare. 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Asia PY 2013 VL 18 SU 1 BP 43 EP 45 PG 3 WC Clinical Neurology SC Neurosciences & Neurology GA 115BQ UT WOS:000316787700013 ER PT J AU Tanidir, C Uneri, OS Gumus, S Erkiran, M AF Tanidir, Canan Uneri, Ozden Sukran Gumus, Sevda Erkiran, Murat TI Asperger Syndrome Disorder Diagnosed in Adulthood: A Case Report SO NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY LA English DT Article DE Asperger's disorder; adulthood; diagnosis; depression ID AUTISM; INDIVIDUALS; COMORBIDITY AB Asperger's disorder (AD) is a pervasive developmental disorder characterized by social impairment, restricted interests and repetitive behaviors. It is seldom that individuals with AD are referred to a psychiatry clinic only for their social and communication deficits. Quite often, the main reason for referral is the presence of other disabling symptoms, such as physical aggression and depression. Although diagnosed mainly in children, AD is increasingly being diagnosed for the first time in adulthood. Here, we present a 24-year-old patient with recurrent depression who was diagnosed as having AD for the first time in adulthood. This case is important to show the difficulty of diagnosing AD for the first time in adulthood and to show how a proper and effective treatment may be delayed if the underlying diagnosis of AD is missed for years. We wanted to emphasize the importance of developmental history and the usefulness of liaison with child and adolescent psychiatry in similar cases when the diagnosis is not clear. (Archives of Neuropsychiatry 2013; 50: 78-81) C1 [Tanidir, Canan; Uneri, Ozden Sukran] Bakirkoy State Hosp Mental Hlth & Neurol Disorder, Child & Adolescent Psychiat Clin, Istanbul, Turkey. [Gumus, Sevda; Erkiran, Murat] Bakirkoy State Hosp Mental Hlth & Neurol Disorder, Istanbul, Turkey. RP Tanidir, C (reprint author), Bakirkoy State Hosp Mental Hlth & Neurol Disorder, Child & Adolescent Psychiat Clin, Istanbul, Turkey. 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PY 2013 VL 50 IS 1 BP 78 EP 81 DI 10.4274/Npa.y6270 PG 4 WC Clinical Neurology SC Neurosciences & Neurology GA 113GY UT WOS:000316655800015 ER PT J AU Jones, EJH Webb, SJ Estes, A Dawson, G AF Jones, E. J. H. Webb, S. J. Estes, A. Dawson, G. TI Rule Learning in Autism: The Role of Reward Type and Social Context SO DEVELOPMENTAL NEUROPSYCHOLOGY LA English DT Article ID SPECTRUM DISORDERS; EXECUTIVE FUNCTION; YOUNG-CHILDREN; DEVELOPMENTAL DELAY; JOINT ATTENTION; FRONTAL-CORTEX; MEMORY; COMMUNICATION; PRESCHOOLERS; IMPAIRMENT AB Learning abstract rules is central to social and cognitive development. Across two experiments, we used Delayed Non-Matching to Sample tasks to characterize the longitudinal development and nature of rule-learning impairments in children with Autism Spectrum Disorder (ASD). Results showed that children with ASD consistently experienced more difficulty learning an abstract rule from a discrete physical reward than children with DD. Rule learning was facilitated by the provision of more concrete reinforcement, suggesting an underlying difficulty in forming conceptual connections. Learning abstract rules about social stimuli remained challenging through late childhood, indicating the importance of testing executive functions in both social and non-social contexts. C1 [Jones, E. J. H.; Webb, S. J.] Seattle Childrens Hosp, Ctr Child Hlth Behav & Dev, Seattle, WA USA. [Webb, S. J.] Univ Washington, Dept Psychiat & Behav Sci, Seattle, WA 98195 USA. [Webb, S. J.] Ctr Human Dev & Disabil, Seattle, WA USA. [Webb, S. J.; Estes, A.; Dawson, G.] Univ Washington, Dept Psychol, Seattle, WA 98195 USA. [Estes, A.] Univ Washington, Dept Speech & Hearing Sci, Seattle, WA 98195 USA. [Dawson, G.] Autism Speaks, New York, NY USA. [Dawson, G.] Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA. RP Webb, SJ (reprint author), Univ Washington, Box 357920 CHDD, Seattle, WA 98195 USA. 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Neuropsychol. PD JAN 1 PY 2013 VL 38 IS 1 BP 58 EP 77 DI 10.1080/87565641.2012.727049 PG 20 WC Psychology, Developmental; Psychology; Psychology, Experimental SC Psychology GA 104HX UT WOS:000315984000004 PM 23311315 ER PT J AU Gan, SM Tung, LC Yeh, CY Wang, CH AF Gan, Shu-Mei Tung, Li-Chen Yeh, Chun-Yu Wang, Chun-Hou TI ICF-CY based assessment tool for children with autism SO DISABILITY AND REHABILITATION LA English DT Article DE Autism; children; ICF-CY; international classification of functioning; disability and health - children and youth ID PERVASIVE DEVELOPMENTAL DISORDERS; SPECTRUM DISORDER; SOCIAL SUPPORT; INTERNATIONAL CLASSIFICATION; MENTAL-HEALTH; YOUNG-CHILDREN; FOLLOW-UP; CORE SET; MOTHERS; DISABILITY AB Purpose: The objectives of this study was to develop an International Classification of Functioning, Disability and Health-Children and Youth (ICF-CY) based questionnaire for children with autism, investigate the inter-rater reliability of the questionnaire and assess functional performance in children with autism. Method: The ICF-CY based questionnaire for children with autism comprised 118 items was designed with reference the ICF-CY structure. The study protocol was divided into two parts. In the first part, the inter-rater reliability of the questionnaire was investigated using information from 26 children (aged 3-6 years) with autism and using the intra-class correlation coefficients to estimate reliability. The second part of the study aimed to assess functional performance of another independent sample (136 children, aged 3-6 years) utilizing the questionnaire. Mean scores were compared by nonparametric statistic. Results: The inter-rater reliability for each domains of the questionnaire was found to be moderate to high (intra-class correlation coefficients ranged from 0.72 to 0.97). Children with autism had major problems in voice and speech functions. They had high dependency when executing individual activities of learning and applied knowledge. They also required maximal assistance while engaging in social activities related to conversation and major life categories. Conclusions: This preliminary study shows that ICF-CY based questionnaire has good reliability and can reflect the functional profile of preschool children with autism. However, further study is needed to confirm other psychometric characteristics. C1 [Gan, Shu-Mei; Yeh, Chun-Yu; Wang, Chun-Hou] Chung Shan Med Univ Hosp, Taichung, Taiwan. [Tung, Li-Chen] Chi Mei Med Ctr, Dept Phys Med & Rehabil, Tainan, Taiwan. [Yeh, Chun-Yu; Wang, Chun-Hou] Chung Shan Med Univ, Sch Phys Therapy, Taichung 40201, Taiwan. RP Wang, CH (reprint author), Chung Shan Med Univ, Sch Phys Therapy, 110,Sec 1,Jianguo N Rd, Taichung 40201, Taiwan. EM chwang@csmu.edu.tw FU National Science Council, Taiwan [NSC 96-2314-B-040-010-MY3] FX All authors state that they have no commercial, financial or personal relationships which could lead to a conflict of interest that could inappropriately influence (bias) their work. The sponsors of the research grant had no involvement in the study design; in the collection, analysis and interpretation of data; in the writing of the manuscript; or in the decision to submit the manuscript for publication. This study was partially supported by research grants from the National Science Council, Taiwan (NSC 96-2314-B-040-010-MY3). 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PY 2013 VL 35 IS 8 BP 678 EP 685 DI 10.3109/09638288.2012.705946 PG 8 WC Rehabilitation SC Rehabilitation GA 107JE UT WOS:000316211800006 PM 22897818 ER PT J AU Girenok, F AF Girenok, Fedor TI On Philosophy SO METAPHILOSOPHY LA English DT Article DE progress; consciousness; language; speech; autism; emotion; sign; symbol AB In this article the author holds that progress in philosophy is a vague concept. Its criteria are not universally acknowledged. All that is clear is that philosophy does not develop in a linear way. Philosophy is polydiscoursive. As for the past fifty years, the author believes three important things happened in philosophy. (1) It has been shown that consciousness exists not within one individual but spreads within a community of people; (2) philosophy has discovered autism, a result that helps us to understand a human being as neither a biological nor a social individual but a third thinga dreaming being who is not only asocial but also tongueless, where speech and consciousness are separated; and (3) contemporary philosophy has learned to distinguish between sign and symbol. And it has been realized that the human mind is neither an instinct nor a computer but an objectified suffering, a transformed emotion. C1 Moscow MV Lomonosov State Univ, Fac Philosophy, Moscow 119991, Russia. RP Girenok, F (reprint author), Moscow MV Lomonosov State Univ, Fac Philosophy, GSP-1, Moscow 119991, Russia. EM antrop@philos.msu.ru NR 0 TC 0 Z9 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0026-1068 J9 METAPHILOSOPHY JI Metaphilosophy PD JAN PY 2013 VL 44 IS 1-2 BP 29 EP 31 DI 10.1111/meta.12005 PG 3 WC Philosophy SC Philosophy GA 066XK UT WOS:000313255200008 ER PT J AU [Anonymous] AF [Anonymous] TI Young Adults with Autism Attracted to STEM Majors in College SO PEDIATRIC ANNALS LA English DT Editorial Material CR Wei X, 2013, J AUTISM DEV DISORD, V43, P1539, DOI 10.1007/s10803-012-1700-z NR 1 TC 0 Z9 0 PU SLACK INC PI THOROFARE PA 6900 GROVE RD, THOROFARE, NJ 08086 USA SN 0090-4481 EI 1938-2359 J9 PEDIATR ANN JI Pediatr. Annu. PD JAN PY 2013 VL 42 IS 1 PG 1 WC Pediatrics SC Pediatrics GA 107VC UT WOS:000316247900010 ER PT J AU Romero-Martinez, A de Andres-Garcia, S Sarinana-Gonzalez, P Sanchis-Calatayud, MV Roa, JM Gonzalez-Bono, E Moya-Albiol, L AF Romero-Martinez, Angel de Andres-Garcia, Sara Sarinana-Gonzalez, Patricia Sanchis-Calatayud, M. V. Roa, Juan M. Gonzalez-Bono, Esperanza Moya-Albiol, L. TI The 2D:4D ratio and its relationship with other androgenisation parameters in parents of individuals with autism spectrum disorders SO ANALES DE PSICOLOGIA LA English DT Article DE androgenisation; cortisol; 2D:4D ratio; autism spectrum disorders; testosterone ID FINGER LENGTH RATIO; 4TH DIGIT RATIO; EMPATHY QUOTIENT EQ; MALE BRAIN THEORY; FETAL TESTOSTERONE; SEX-DIFFERENCES; 2ND; 2D-4D; WOMEN; 2D/4D AB The 2D:4D ratio is the quotient between the index and ring finger lengths and is a non-direct indicator of androgenisation. If prenatal testosterone levels in the amniotic fluid are high then the probability increases of developing lower ratio values. It has been suggested that people with autism spectrum disorders (ASD) and their parents may have highly androgenised brains, and for this reason the 2D:4D ratio is used as a marker of such idiosyncrasies. This study aims to analyse if parents of people with ASD differ from the general population in several parameters of androgenisation related to the 2D:4D ratio. The sample was composed of 43 parents of offspring with ASD and 42 controls who had the 2D:4D ratio measured, answered several trait questionnaires, and had their testosterone and cortisol levels measured. Although there were no differences between groups in the 2D:4D ratio, the left hand of the ASD parents showed greater predictive ability to explain empathy and autism quotients, cooperative behaviour, and cortisol levels. In addition, the severity of the symptoms of their offspring was predicted only with male parents. The results indicate that the 2D:4D ratio could be used together with other parameters as an indicator of the likelihood of developing autistic traits in offspring. C1 [Romero-Martinez, Angel; de Andres-Garcia, Sara; Sarinana-Gonzalez, Patricia; Sanchis-Calatayud, M. V.; Roa, Juan M.; Gonzalez-Bono, Esperanza; Moya-Albiol, L.] Univ Valencia, Fac Psychol, Dept Psychobiol, Valencia 46010, Spain. RP Moya-Albiol, L (reprint author), Univ Valencia, Fac Psychol, Dept Psychobiol, Ave Blasco Ibanez 21, Valencia 46010, Spain. EM Luis.Moya@uv.es RI Moya-Albiol, Luis/C-6078-2011 FU Spanish Ministry of Science and Innovation [PSI2008-0448/PSIC]; Committee for Business, Research and Science of the Regional Government of Valencia (Spain) [ACOMP/2010/250, PROME-TEO/2011/048] FX This study was financed by the Spanish Ministry of Science and Innovation (PSI2008-0448/PSIC) and the Committee for Business, Research and Science of the Regional Government of Valencia (Spain) (ACOMP/2010/250 & PROME-TEO/2011/048). 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Psicol. PD JAN PY 2013 VL 29 IS 1 BP 264 EP 271 DI 10.6018/analesps.29.1.135501 PG 8 WC Psychology; Psychology, Multidisciplinary SC Psychology GA 051FG UT WOS:000312111000031 ER PT J AU St Clair, D AF St Clair, David TI Structural and copy number variants in the human genome: implications for psychiatry SO BRITISH JOURNAL OF PSYCHIATRY LA English DT Editorial Material ID SCHIZOPHRENIA; AUTISM AB Copy number variants are small chromosomal deletions and duplications. When they alter the dose of genes critical for normal brain development and adult brain functioning they may cause severe disorders such as autism and schizophrenia. Numerous such loci have recently been identified. They are offering amazing leads for neuropsychiatric research. C1 Univ Aberdeen, Div Appl Med, Aberdeen, Scotland. RP St Clair, D (reprint author), Univ Aberdeen, Div Appl Med, Fosterhill, Aberdeen, Scotland. 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Berchio, Cristina TI The mirror mechanism and its potential role in autism spectrum disorder SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY LA English DT Editorial Material AB The mirror mechanism allows the direct translation of a perceived (seen, felt, heard) action into the same motor representation of its related goal. This mechanism allows a direct comprehension of others goals and motor intentions, enabling an embodied link between individuals. Because the mirror mechanism is a functional expression of the motor system, these findings suggest the relevance of the motor system to social cognition. It has been hypothesized that the impaired understanding of others intentions, sensations, and emotions reported in autism spectrum disorder (ASD) could be linked to an alteration of the mirror mechanism in all of these domains. In this review, we address the theoretical issues underlying the social impairments in ASD and discuss them in relation to the cognitive role of the mirror mechanism. C1 [Gallese, Vittorio; Rochat, Magali J.; Berchio, Cristina] Univ Parma, Dept Neurosci, Physiol Sect, I-43100 Parma, Italy. [Gallese, Vittorio] Italian Inst Technol, Brain Ctr Social & Motor Cognit, Parma, Italy. RP Gallese, V (reprint author), Univ Parma, Dept Neurosci, Physiol Sect, Via Volturno 39-E, I-43100 Parma, Italy. EM vittorio.gallese@unipr.it FU EU; European Research Council; Fondazione Monte FX This work was supported by the EU grants TESIS and Rossi to VG, the European Research Council Grant CogSystem to MJR, and Fondazione Monte to CB. NR 0 TC 18 Z9 18 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0012-1622 J9 DEV MED CHILD NEUROL JI Dev. Med. Child Neurol. PD JAN PY 2013 VL 55 IS 1 BP 15 EP 22 DI 10.1111/j.1469-8749.2012.04398.x PG 8 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 053VB UT WOS:000312301700009 PM 22924341 ER PT J AU Jung, NH Janzarik, WG Delvendahl, I Munchau, A Biscaldi, M Mainberger, F Baumer, T Rauh, R Mall, V AF Jung, Nikolai H. Janzarik, Wibke G. Delvendahl, Igor Muenchau, Alexander Biscaldi, Monica Mainberger, Florian Baeumer, Tobias Rauh, Reinhold Mall, Volker TI Impaired induction of long-term potentiation-like plasticity in patients with high-functioning autism and Asperger syndrome SO DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY LA English DT Article ID HUMAN MOTOR CORTEX; PAIRED ASSOCIATIVE STIMULATION; TRANSCRANIAL MAGNETIC STIMULATION; CORTICAL PLASTICITY; RETT-SYNDROME; MOUSE MODEL; CONNECTIVITY; EXCITABILITY; INHIBITION; MODULATION AB Aim We aimed to investigate the induction of long-term potentiation (LTP)-like plasticity by paired associative stimulation (PAS) in patients with high-functioning autism and Asperger syndrome (HFA/AS). Method PAS with an interstimulus interval between electrical and transcranial magnetic stimulation of 25 ms (PAS25) was performed in patients with HFA/AS (n=9; eight males, one female; mean age 17y 11mo, SD 4y 5mo) and in typically developing age-matched volunteers (n=9; five males, four females; mean age 22y 4mo, SD 5y 2mo). The amplitude of motor-evoked potentials was measured before PAS25, immediately after stimulation, and 30 minutes and 60 minutes later. A PAS protocol adapted to individual N20 latency (PASN20+2) was performed in six additional patients with HFA/AS. Short-interval intracortical inhibition was measured using paired-pulse stimulation. Results In contrast to the typically developing participants, the patients with HFA/AS did not show a significant increase in motor-evoked potentials after PAS25. This finding could also be demonstrated after adaptation for N20 latency. Short-interval intracortical inhibition of patients with HFA/AS was normal compared with the comparison group and did not correlate with PAS effect. Interpretation Our results show a significant impairment of LTP-like plasticity induced by PAS in individuals with HFA/AS compared with typically developing participants. This finding is in accordance with results from animal studies as well as human studies. Impaired LTP-like plasticity in patients with HFA/AS points towards reduced excitatory synaptic connectivity and deficits in sensory-motor integration in these patients. C1 [Jung, Nikolai H.; Mall, Volker] Tech Univ Munich, Dept Paediat, Munich, Germany. [Jung, Nikolai H.; Janzarik, Wibke G.; Delvendahl, Igor; Mainberger, Florian; Mall, Volker] Univ Hosp Freiburg, Div Neuropaediat & Muscular Disorders, Dept Paediat & Adolescent Med, Freiburg, Germany. [Delvendahl, Igor] European Neurosci Inst Gottingen, Gottingen, Germany. [Muenchau, Alexander; Baeumer, Tobias] Univ Med Ctr Hamburg Eppendorf UKE, Dept Neurol, Hamburg, Germany. [Biscaldi, Monica; Rauh, Reinhold] Univ Hosp Freiburg, Dept Child & Adolescent Psychiat & Psychotherapy, Freiburg, Germany. RP Mall, V (reprint author), Kinderzentrum Munchen Gemeinnutzige GmbH, Heiglhofstr 63, D-81377 Munich, Germany. EM volker.mall@tum.de RI Delvendahl, Igor/A-7176-2013 OI Delvendahl, Igor/0000-0002-6151-2363 FU Deutsche Forschungsgemeinschaft [MA 3306/4-1] FX We thank the volunteers who participated in this study. The study was supported by a grant from Deutsche Forschungsgemeinschaft (MA 3306/4-1). 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Med. Child Neurol. PD JAN PY 2013 VL 55 IS 1 BP 83 EP 89 DI 10.1111/dmcn.12012 PG 7 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 053VB UT WOS:000312301700017 PM 23157428 ER PT J AU Almansour, MA Alateeq, MA Alzahrani, MK Algeffari, MA Alhomaidan, HT AF Almansour, Mohammed A. Alateeq, Mohammed A. Alzahrani, Mansour K. Algeffari, Metab A. Alhomaidan, Homaidan T. TI Depression and anxiety among parents and caregivers of autistic spectral disorder children SO NEUROSCIENCES LA English DT Article ID PSYCHIATRIC-DISORDERS; HOSPITAL ANXIETY; INTELLECTUAL DISABILITIES; INTERVENTION; STRESS; SCALE; SYMPTOMS; SIBLINGS; MOTHERS; FAMILY AB Objectives: To evaluate the presence of depression and anxiety in parents/caregivers of autistic spectral disorder (ASD) children, and to identify associated factors. Methods: In this retrospective cohort study carried out between July and December 2011, parents/caregivers of at least one child diagnosed with an ASD (cases group), were recruited through the Saudi Charitable Society of Autism Families and the Autism Clinic in the Pediatric out-patient clinic in King Fahad National Guard Hospital, King Abdulaziz Medical City (KAMC), Riyadh, Kingdom of Saudi Arabia. The parents/caregivers of a normally developed child (control group) were recruited from the Well Child Clinic at King Abdulaziz Medical City, Riyadh. We used a self-reported questionnaire containing questions on demographic data, as well as the Arabic version of the hospital anxiety and depression scale. Results: The study included 100 parents/caregivers, 50 cases and 50 controls. More than 50% of the control group was in the age group 26-30 years (56%), while 42% of cases were in the age group 31-35 years. Time lapsed since autism diagnosis was over 3 years in one-third of cases. Twenty-two percent of cases, and only 2% of control parents/caregivers had a history of psychiatric problems (p=0.002). Both the mean depression score, and the mean anxiety score was significantly higher among cases when compared with controls, p<0.001. Conclusion: Autism is associated with burden and stress for parents/caregivers of the affected child. The demands placed by the disability contribute to a higher overall incidence of depression and anxiety among parents/caregivers. Neurosciences 2013; Vol. 18 (1): 58-63 C1 [Almansour, Mohammed A.; Alzahrani, Mansour K.] Almajmaah Univ, Fac Med, Dept Family Med, Almajmaah 11952, Saudi Arabia. [Alateeq, Mohammed A.] King Abdul Aziz Med City, King Fahad Natl Guard Hosp, Program Med, Riyadh, Saudi Arabia. [Algeffari, Metab A.; Alhomaidan, Homaidan T.] Alqasim Univ, Fac Med, Dept Family Med, Alqasim, Saudi Arabia. RP Almansour, MA (reprint author), Almajmaah Univ, Fac Med, POB 66, Almajmaah 11952, Saudi Arabia. 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This study assesses the emotional resolution of couples faced with an infertility diagnosis by examining their narratives. Fifty-seven couples were recruited from fertility clinics to participate in a semistructured interview prior to in vitro fertilization. Two aspects of the couples' reactions to the infertility diagnosis were assessed: (1) each individual's capacity to acknowledge the emotional reality of the diagnosis (diagnosis resolution) and (2) the couple's ability to construct a shared meaning of the infertility diagnosis experience (narrative co-construction). Associations between these aspects and self-reported marital satisfaction, infertility-related stress, and diagnosis-related variables were analyzed. 73.7% of women and 61.4% of men had acknowledged the emotional reality of the diagnosis, and their scores for narrative co-construction were comparable to reference samples. Marital satisfaction, but not infertility-related stress, was associated with diagnosis resolution and narrative co-construction. The results indicate the importance of detecting couples with fewer individual and marital resources needed to face the reality of the diagnosis. A couple's capacity to perceive the infertility diagnosis as a shared problem is also essential for dealing with this common life event. C1 [Darwiche, Joelle; Maillard, Florine; Guex, Patrice; Despland, Jean-Nicolas; de Roten, Yves] Univ Lausanne, Dept Psychiat, CH-1015 Lausanne, Switzerland. [Favez, Nicolas] Univ Geneva, Fac Psychol & Sci Educ, CH-1211 Geneva 4, Switzerland. [Germond, Marc] Ctr Medically Assisted Procreat, Lausanne, Switzerland. [Germond, Marc] FABER Fdn, Lausanne, Switzerland. RP Darwiche, J (reprint author), Inst Univ Psychotherapie, Ave Morges 10, CH-1004 Lausanne, Switzerland. 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TI Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder SO TRANSLATIONAL PSYCHIATRY LA English DT Article DE acyl-carnitines; autism spectrum disorder; clostridia; microbiome; mitochondrial disease; propionic acid ID CHAIN FATTY-ACIDS; DEXTRAN SULFATE SODIUM; PRODUCT PROPIONIC-ACID; BLOOD-BRAIN-BARRIER; EXPERIMENTAL COLITIS; METHYLMALONIC ACID; COMPLEX ACTIVITIES; COA DEHYDROGENASE; OXIDATIVE STRESS; SOCIAL-BEHAVIOR AB Autism spectrum disorder (ASD) has been associated with mitochondrial disease (MD). Interestingly, most individuals with ASD and MD do not have a specific genetic mutation to explain the MD, raising the possibility of that MD may be acquired, at least in a subgroup of children with ASD. Acquired MD has been demonstrated in a rodent ASD model in which propionic acid (PPA), an enteric bacterial fermentation product of ASD-associated gut bacteria, is infused intracerebroventricularly. This animal model shows validity as it demonstrates many behavioral, metabolic, neuropathologic and neurophysiologic abnormalities associated with ASD. This animal model also demonstrates a unique pattern of elevations in short-chain and long-chain acyl-carnitines suggesting abnormalities in fatty-acid metabolism. To determine if the same pattern of biomarkers of abnormal fatty-acid metabolism are present in children with ASD, the laboratory results from a large cohort of children with ASD (n = 213) who underwent screening for metabolic disorders, including mitochondrial and fatty-acid oxidation disorders, in a medically based autism clinic were reviewed. Acyl-carnitine panels were determined to be abnormal if three or more individual acyl-carnitine species were abnormal in the panel and these abnormalities were verified by repeated testing. Overall, 17% of individuals with ASD demonstrated consistently abnormal acyl-carnitine panels. Next, it was determined if specific acyl-carnitine species were consistently elevated across the individuals with consistently abnormal acyl-carnitine panels. Significant elevations in short-chain and long-chain, but not medium-chain, acyl-carnitines were found in the ASD individuals with consistently abnormal acyl-carnitine panels-a pattern consistent with the PPA rodent ASD model. Examination of electron transport chain function in muscle and fibroblast culture, histological and electron microscopy examination of muscle and other biomarkers of mitochondrial metabolism revealed a pattern consistent with the notion that PPA could be interfering with mitochondrial metabolism at the level of the tricarboxylic-acid cycle (TCAC). The function of the fatty-acid oxidation pathway in fibroblast cultures and biomarkers for abnormalities in non-mitochondrial fatty-acid metabolism were not consistently abnormal across the subgroup of ASD children, consistent with the notion that the abnormalities in fatty-acid metabolism found in this subgroup of children with ASD were secondary to TCAC abnormalities. Glutathione metabolism was abnormal in the subset of ASD individuals with consistent acylcarnitine panel abnormalities in a pattern similar to glutathione abnormalities found in the PPA rodent model of ASD. These data suggest that there are similar pathological processes between a subset of ASD children and an animal model of ASD with acquired mitochondrial dysfunction. Future studies need to identify additional parallels between the PPA rodent model of ASD and this subset of ASD individuals with this unique pattern of acyl-carnitine abnormalities. A better understanding of this animal model and subset of children with ASD should lead to better insight in mechanisms behind environmentally induced ASD pathophysiology and should provide guidance for developing preventive and symptomatic treatments. Translational Psychiatry (2013) 3, e220; doi:10.1038/tp.2012.143; published online 22 January 2013 C1 [Frye, R. E.; Melnyk, S.] Arkansas Childrens Hosp Res Inst, Dept Pediat, Little Rock, AR 72202 USA. [MacFabe, D. F.] Univ Western Ontario, Schulich Sch Med & Dent, Lawson Res Inst, Dept Psychol Neurosci,Kilee Patchell Evans Autism, London, ON, Canada. [MacFabe, D. F.] Univ Western Ontario, Schulich Sch Med & Dent, Lawson Res Inst, Dept Psychiat, London, ON, Canada. RP Frye, RE (reprint author), Arkansas Childrens Hosp Res Inst, Dept Pediat, Slot 512-41B,13 Childrens Way, Little Rock, AR 72202 USA. EM REFrye@uams.edu FU GoodLife's Children's Foundation; Autism Research Institute FX This research was supported in part from generous contributions from GoodLife's Children's Foundation and Autism Research Institute to DFM. We thank Dr Raymond Thomas (postdoctoral fellow) for published data on brain lipids and Drs Stephan Kahler and Anirudh Saronwala for their insight into propionic metabolism. 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Psychiatr. PD JAN PY 2013 VL 3 AR e220 DI 10.1038/tp.2012.143 PG 10 WC Psychiatry SC Psychiatry GA 104KV UT WOS:000315992700015 PM 23340503 ER PT J AU Oh, JE Chambwe, N Klein, S Gal, J Andrews, S Gleason, G Shaknovich, R Melnick, A Campagne, F Toth, M AF Oh, J-E Chambwe, N. Klein, S. Gal, J. Andrews, S. Gleason, G. Shaknovich, R. Melnick, A. Campagne, F. Toth, M. TI Differential gene body methylation and reduced expression of cell adhesion and neurotransmitter receptor genes in adverse maternal environment SO TRANSLATIONAL PSYCHIATRY LA English DT Article DE CpG island; development; DNA methylation; exon; maternal effect ID MEDIAL PREFRONTAL CORTEX; IMPAIRED STRESS-RESPONSE; ANXIETY-LIKE BEHAVIOR; EARLY-LIFE STRESS; DNA METHYLATION; MICE LACKING; ADULT MICE; GLUCOCORTICOID-RECEPTOR; VENTRAL HIPPOCAMPUS; IOMAZENIL-SPECT AB Early life adversity, including adverse gestational and postpartum maternal environment, is a contributing factor in the development of autism, attention deficit hyperactivity disorder (ADHD), anxiety and depression but little is known about the underlying molecular mechanism. In a model of gestational maternal adversity that leads to innate anxiety, increased stress reactivity and impaired vocal communication in the offspring, we asked if a specific DNA methylation signature is associated with the emergence of the behavioral phenotype. Genome-wide DNA methylation analyses identified 2.3% of CpGs as differentially methylated (that is, differentially methylated sites, DMSs) by the adverse environment in ventral-hippocampal granule cells, neurons that can be linked to the anxiety phenotype. DMSs were typically clustered and these clusters were preferentially located at gene bodies. Although CpGs are typically either highly methylated or unmethylated, DMSs had an intermediate (20-80%) methylation level that may contribute to their sensitivity to environmental adversity. The adverse maternal environment resulted in either hyper or hypomethylation at DMSs. Clusters of DMSs were enriched in genes that encode cell adhesion molecules and neurotransmitter receptors; some of which were also downregulated, indicating multiple functional deficits at the synapse in adversity. Pharmacological and genetic evidence links many of these genes to anxiety. Translational Psychiatry (2013) 3, e218; doi:10.1038/tp.2012.130; published online 22 January 2013 C1 [Oh, J-E; Klein, S.; Gleason, G.; Toth, M.] Weill Cornell Med Coll, Dept Pharmacol, New York, NY 10065 USA. [Chambwe, N.; Andrews, S.; Campagne, F.] Weill Cornell Med Coll, Dept Physiol & Biophys, New York, NY 10065 USA. [Chambwe, N.; Andrews, S.; Campagne, F.] Weill Cornell Med Coll, HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsau, New York, NY 10065 USA. [Gal, J.] Rockefeller Univ, Harold & Margaret Milliken Hatch Lab Neuroendocri, New York, NY 10021 USA. [Shaknovich, R.; Melnick, A.] Weill Cornell Med Coll, Dept Med, New York, NY 10065 USA. RP Oh, JE (reprint author), Weill Cornell Med Coll, Dept Pharmacol, New York, NY 10065 USA. EM jio2002@med.cornell.edu; mtoth@med.cornell.edu RI Chambwe, Nyasha/M-7796-2013 FU US National Institute of Mental Health [5RO1MH086883, 1R01MH58669] FX We thank Yushan Li of the Epigenomics core facility and Dr Jenny Xiang of the Genomics Resources Core Facility for technical support. We also thank Dr Piali Mukherjee for computational analysis assistance and Drs Maria Figueroa, Min seok Song and Sung hyun Kim for technical advice. This work was supported by US National Institute of Mental Health grant 5RO1MH086883 and 1R01MH58669 to MT. 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Psychiatr. PD JAN PY 2013 VL 3 AR e218 DI 10.1038/tp.2012.130 PG 12 WC Psychiatry SC Psychiatry GA 104KV UT WOS:000315992700013 PM 23340501 ER PT J AU Kelly, DJ Walker, R Norbury, CF AF Kelly, David J. Walker, Robin Norbury, Courtenay Frazier TI Deficits in volitional oculomotor control align with language status in autism spectrum disorders SO DEVELOPMENTAL SCIENCE LA English DT Article ID HIGH-FUNCTIONING AUTISM; SACCADIC EYE-MOVEMENTS; FIXATION PATTERNS; VISUAL FIXATION; 1ST-DEGREE RELATIVES; EXECUTIVE FUNCTION; EXPRESS SACCADES; WORKING-MEMORY; CHILDREN; IMPAIRMENT AB Eye-tracking paradigms are increasingly used to investigate higher-level social and cognitive processing in autism spectrum disorder (ASD). However, the integrity of the oculomotor system within ASD is unclear, with contradictory reports of aberrant eye-movements on basic oculomotor tasks. The purpose of the current study was to determine whether reducing population heterogeneity and distinguishing neurocognitive phenotypes can clarify discrepancies in oculomotor behaviour evident in previous reports. Reflexive and volitional eye-movement control was assessed in 73 children aged 8-14 years from four distinct groups: Autism Language Normal (ALN), Autism Language Impaired (ALI), non-autistic Language Impaired (LI) and Typically Developing (TD). Eye-movement control was measured using pro-and antisaccade tasks and a novel 'search distracter' task to measure distractibility. Reflexive eye-movements were equivalent across groups, but deficits in volitional eye-movement control were found that aligned with language status, and were not specific to ASD. More than 80% of ALI and LI children presented error rates at least 1.5 SDs below the TD mean in an antisaccade task. In the search distracter task, 35.29% of ALI children and 43.75% of LI children had error rates greater than 1.5 SDs compared with 17.64% of ALN children. A significant proportion of children with neurodevelopmental disorders involving language function have pronounced difficulties suppressing reflexive saccades and maintaining fixations in the presence of competing stimuli. We extend the putative link between ALI and LI populations to non-language tasks, and highlight the need to account for co-morbidity in understanding the ontogenesis of ASD. C1 [Kelly, David J.; Walker, Robin; Norbury, Courtenay Frazier] Univ London, Dept Psychol, London WC1E 7HU, England. RP Kelly, DJ (reprint author), Royal Holloway Univ London, Dept Psychol, Egham Hill, Egham TW20 0EX, Surrey, England. 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Sci. PD JAN PY 2013 VL 16 IS 1 BP 56 EP 66 DI 10.1111/j.1467-7687.2012.01188.x PG 11 WC Psychology, Developmental; Psychology, Experimental SC Psychology GA 096DD UT WOS:000315383300006 PM 23278927 ER PT J AU Ewing, L Pellicano, E Rhodes, G AF Ewing, Louise Pellicano, Elizabeth Rhodes, Gillian TI Atypical updating of face representations with experience in children with autism SO DEVELOPMENTAL SCIENCE LA English DT Article ID SPECTRUM DISORDERS; RECOGNITION; ADAPTATION; PERCEPTION; IDENTITY; UPRIGHT; MEMORY; US AB Face identity aftereffects are significantly diminished in children with autism relative to typical children, which may reflect reduced perceptual updating with experience. Here, we investigated whether this atypicality also extends to non-face stimulus categories, which might signal a pervasive visual processing difference in individuals with autism. We used a figural aftereffect task to measure directly perceptual updating following exposure to distorted upright faces, inverted faces and cars, in typical children and children with autism. A size-change between study and test stimuli limited the likelihood that any processing atypicalities reflected group differences in adaptation to low-level features of the stimuli. Results indicated that, relative to typical children, figural aftereffects for upright faces, but not inverted faces or cars, were significantly attenuated in children with autism. Moreover, the group difference was amplified when we isolated the 'face-selective' component of the aftereffect, by partialling out the mid-level shape adaptation common to upright and inverted face stimuli. Notably, the aftereffects of typical children were disproportionately larger for upright faces than for inverted faces and cars, but the magnitude of aftereffects of autistic children was not similarly modulated according to stimulus category. These findings are inconsistent with a pervasive adaptive coding atypicality relative to typical children, and suggest that reduced perceptual updating may constitute a high-level, and possibly face-selective, visual processing difference in children with autism. C1 [Ewing, Louise; Pellicano, Elizabeth; Rhodes, Gillian] Univ Western Australia, Sch Psychol, ARC Ctr Excellence Cognit & Its Disorders, Crawley, WA 6009, Australia. [Pellicano, Elizabeth] Univ London, Inst Educ, CRAE, London WC1E 7HU, England. RP Ewing, L (reprint author), Univ Western Australia, Sch Psychol, 35 Stirling Highway, Crawley, WA 6009, Australia. 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Dosmukhambetova, Dina Shearn, Julia Clifton, Amy TI THE INFLUENCE OF DYSPHORIA AND DEPRESSION ON MENTAL STATE DECODING SO JOURNAL OF SOCIAL AND CLINICAL PSYCHOLOGY LA English DT Article ID HIGH-FUNCTIONING AUTISM; FACIAL EXPRESSIONS; COLLEGE-STUDENTS; CLINICAL DEPRESSION; ASPERGER-SYNDROME; MAJOR DEPRESSION; HOSPITAL ANXIETY; ADULTS; MIND; RECOGNITION AB Prior research found conflicting results concerning the relationship between depression and mental state decoding ability as assessed by the 'Eyes Test' developed by Baron-Cohen and colleagues. In some studies the relationship is negative, suggesting that depressed persons are worse than controls in decoding mental states on the basis of information from the eye region of others' faces. Other research points to a positive relation between depression and mental state decoding. We report a study of mental state decoding ability in two samples of university students, one a group of students attending the university's counseling service, the other a group of normal college students. The results are consistent in showing a negative relation between depression and mental state decoding ability. Possible reasons for discrepancies in research results are discussed. C1 [Manstead, Antony S. R.; Dosmukhambetova, Dina; Shearn, Julia; Clifton, Amy] Cardiff Univ, Cardiff CF10 3AT, S Glam, Wales. RP Manstead, ASR (reprint author), Cardiff Univ, Sch Psychol, Tower Bldg,Pk Pl, Cardiff CF10 3AT, S Glam, Wales. 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Soc. Clin. Psychol. PD JAN PY 2013 VL 32 IS 1 BP 116 EP 133 PG 18 WC Psychology, Clinical; Psychology, Social SC Psychology GA 100DA UT WOS:000315674800007 ER PT J AU Kocovska, E Billstedt, E Ellefsen, A Kampmann, H Gillberg, IC Biskupsto, R Andorsdottir, G Stora, T Minnis, H Gillberg, C AF Kocovska, Eva Billstedt, Eva Ellefsen, Asa Kampmann, Hanna Gillberg, I. Carina Biskupsto, Rannva Andorsdottir, Guorio Stora, Tormoour Minnis, Helen Gillberg, Christopher TI Autism in the Faroe Islands: Diagnostic Stability from Childhood to Early Adult Life SO SCIENTIFIC WORLD JOURNAL LA English DT Article ID SPECTRUM DISORDERS; SCREENING QUESTIONNAIRE; OBSERVATION-SCHEDULE; COMMUNICATION DISORDERS; INTERRATER RELIABILITY; PARKINSONS-DISEASE; ASPERGER-SYNDROME; TOTAL POPULATION; SCHOOL-AGE; CHILDREN AB Childhood autism or autism spectrum disorder (ASD) has been regarded as one of the most stable diagnostic categories applied to young children with psychiatric/developmental disorders. The stability over time of a diagnosis of ASD is theoretically interesting and important for various diagnostic and clinical reasons. We studied the diagnostic stability of ASD from childhood to early adulthood in the Faroe Islands: a total school age population sample (8-17-year-olds) was screened and diagnostically assessed for AD in 2002 and 2009. This paper compares both independent clinical diagnosis and Diagnostic Interview for Social and Communication Disorders (DISCO) algorithm diagnosis at two time points, separated by seven years. The stability of clinical ASD diagnosis was perfect for AD, good for "atypical autism"/PDD-NOS, and less than perfect for Asperger syndrome (AS). Stability of the DISCO algorithm subcategory diagnoses was more variable but still good for AD. Both systems showed excellent stability over the seven-year period for "any ASD" diagnosis, although a number of clear cases had been missed at the original screening in 2002. The findings support the notion that subcategories of ASD should be collapsed into one overarching diagnostic entity with subgrouping achieved on other "non-autism" variables, such as IQ and language levels and overall adaptive functioning. C1 [Kocovska, Eva; Minnis, Helen] Univ Glasgow, Royal Hosp Sick Children, Coll Med Vet & Life Sci, Inst Hlth andWellbeing, Glasgow G3 8SJ, Lanark, Scotland. [Billstedt, Eva; Gillberg, I. Carina; Gillberg, Christopher] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Gillberg Neuropsychiat Ctr, S-41119 Gothenburg, Sweden. [Ellefsen, Asa; Kampmann, Hanna] Sernamsdepilin, Dept Educ Psychol, Torshavn 100, Faroe Islands, Denmark. [Biskupsto, Rannva] Natl Hosp Faroe Isl, Dept Psychiat, Torshavn 100, Faroe Islands, Denmark. [Andorsdottir, Guorio] Minist Hlth, Genet Biobank Faroes, Torshavn 100, Faroe Islands, Denmark. [Stora, Tormoour] Natl Hosp Faroe Isl, Ctr Psychiat, Torshavn 100, Faroe Islands, Denmark. 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World J. PY 2013 AR 592371 DI 10.1155/2013/592371 PG 7 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 097VL UT WOS:000315501500001 ER PT J AU Hadjixenofontos, A Schmidt, MA Whitehead, PL Konidari, I Hedges, DJ Wright, HH Abramson, RK Menon, R Williams, SM Cuccaro, ML Haines, JL Gilbert, JR Pericak-Vance, MA Martin, ER McCauley, JL AF Hadjixenofontos, Athena Schmidt, Michael A. Whitehead, Patrice L. Konidari, Ioanna Hedges, Dale J. Wright, Harry H. Abramson, Ruth K. Menon, Ramkumar Williams, Scott M. Cuccaro, Michael L. Haines, Jonathan L. Gilbert, John R. Pericak-Vance, Margaret A. Martin, Eden R. McCauley, Jacob L. TI Evaluating Mitochondrial DNA Variation in Autism Spectrum Disorders SO ANNALS OF HUMAN GENETICS LA English DT Article DE mitochondrial DNA; autism; autism spectrum disorders; association studies; genetic ID CARRIER SLC25A12 GENE; GENOME-WIDE ASSOCIATION; N-ACETYLASPARTATE; HUMAN-EVOLUTION; DISEASE; DYSFUNCTION; POPULATION; COMMON; HAPLOGROUPS; CHILDREN AB Despite the increasing speculation that oxidative stress and abnormal energy metabolism may play a role in Autism Spectrum Disorders (ASD), and the observation that patients with mitochondrial defects have symptoms consistent with ASD, there are no comprehensive published studies examining the role of mitochondrial variation in autism. Therefore, we have sought to comprehensively examine the role of mitochondrial DNA (mtDNA) variation with regard to ASD risk, employing a multi-phase approach. In phase 1 of our experiment, we examined 132 mtDNA single-nucleotide polymorphisms (SNPs) genotyped as part of our genome-wide association studies of ASD. In phase 2 we genotyped the major European mitochondrial haplogroup-defining variants within an expanded set of autism probands and controls. Finally in phase 3, we resequenced the entire mtDNA in a subset of our Caucasian samples (similar to 400 proband-father pairs). In each phase we tested whether mitochondrial variation showed evidence of association to ASD. Despite a thorough interrogation of mtDNA variation, we found no evidence to suggest a major role for mtDNA variation in ASD susceptibility. Accordingly, while there may be attractive biological hints suggesting the role of mitochondria in ASD our data indicate that mtDNA variation is not a major contributing factor to the development of ASD. C1 [Hadjixenofontos, Athena; Schmidt, Michael A.; Whitehead, Patrice L.; Konidari, Ioanna; Hedges, Dale J.; Cuccaro, Michael L.; Gilbert, John R.; Pericak-Vance, Margaret A.; Martin, Eden R.; McCauley, Jacob L.] Univ Miami, Miller Sch Med, John P Hussman Inst Human Genom, Miami, FL 33136 USA. [Wright, Harry H.; Abramson, Ruth K.] Univ S Carolina, Sch Med, Columbia, SC USA. [Menon, Ramkumar] Univ Texas Med Branch, Galveston, TX 77555 USA. [Williams, Scott M.] Vanderbilt Univ, Dept Mol Physiol & Biophys, Ctr Human Genet Res, Nashville, TN 37232 USA. [Haines, Jonathan L.] Vanderbilt Univ, Med Ctr, Ctr Human Genet Res, Nashville, TN USA. RP McCauley, JL (reprint author), Univ Miami, Miller Sch Med, Hussman Inst Human Genom, 1501 NW 10th Ave,BRB 307,M 860, Miami, FL 33136 USA. EM jmccauley@med.miami.edu RI Williams, Scott/B-9491-2012; Haines, Jonathan/C-3374-2012 FU NIMH [1U24MH081810]; Massachusetts General Hospital [MH 63420]; National Institutes of Health [9R01MH080647, 7P01NS026630] FX We thank the autism patients and their families, as well as the control parents and children for their participation in our studies. This work would not be possible without their generosity. We gratefully acknowledge the resources provided by the AGRE Consortium and the participating AGRE families. The AGRE is a program of Autism Speaks and is supported in part, by grant 1U24MH081810 from the NIMH to Clara M. Lajonchere (PI). We thank the individuals who volunteered for the control sample for their participation. A number of control subjects came from the National Institute of Mental Health Schizophrenia Genetics Initiative (NIMH-GI), data and biomaterials were collected by the "Molecular Genetics of Schizophrenia II" (MGS-2) collaboration. The investigators and co-investigators are: ENH/Northwestern University, Evanston, IL, MH059571, Pablo V. Gejman, M.D. (Collaboration Coordinator; PI), Alan R. Sanders, M. D.; Emory University School of Medicine, Atlanta GA, MH59587, Farooq Amin, M. D. (PI); Louisiana State University Health Sciences Center; New Orleans, Louisiana, MH067257, Nancy Buccola APRN, BC, MSN (PI); University of California-Irvine, Irvine, CA, MH60870, William Byerley, M. D. (PI); Washington University, St. Louis, MO, U01, MH060879, C. Robert Cloninger, M. D. (PI); University of Iowa, Iowa City, IA, MH59566, Raymond Crowe, M. D. (PI), Donald Black, M. D.; University of Colorado, Denver, CO, MH059565, Robert Freedman, M. D. (PI); University of Pennsylvania, Philadelphia, PA, MH061675, Douglas Levinson, M. D. (PI); University of Queensland, Queensland, Australia, MH059588, Bryan Mowry, M. D. (PI); Mt. Sinai School of Medicine, New York, NY, MH59586, Jeremy Silverman, Ph.D. (PI). In addition, cord blood samples were collected by V L Nimgaonkar's group at the University of Pittsburgh, as part of a multi-institutional collaborative research project with J Smoller, M. D. D. Sc. and P Sklar, M. D. Ph.D. (Massachusetts General Hospital) (grant MH 63420).We are grateful to the John P. Hussman Institute for Human Genomics (HIHG) personnel within the Patient and Family Ascertainment Core, the Biorepository, and the Center for Genome Technology for their commitment to this project. This research was supported by grants from the National Institutes of Health (9R01MH080647 and 7P01NS026630) and by a gift from the Hussman Foundation. A subset of the participants was ascertained while Dr. Pericak-Vance was a faculty member at Duke University. 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Hum. Genet. PD JAN PY 2013 VL 77 BP 9 EP 21 DI 10.1111/j.1469-1809.2012.00736.x PN 1 PG 13 WC Genetics & Heredity SC Genetics & Heredity GA 093MU UT WOS:000315196800002 PM 23130936 ER PT J AU Hendy, HM Seiverling, L Lukens, CT Williams, KE AF Hendy, Helen M. Seiverling, Laura Lukens, Colleen T. Williams, Keith E. TI Brief Assessment of Mealtime Behavior in Children: Psychometrics and Association With Child Characteristics and Parent Responses SO CHILDRENS HEALTH CARE LA English DT Article ID FEEDING PRACTICES; WEIGHT STATUS; QUESTIONNAIRE; ADIPOSITY; INVENTORY; EXPOSURE; AUTISM; DIET AB The present study examined psychometric properties of the Brief Autism Mealtime Behavior Inventory (BAMBI) when applied to a population of children with feeding problems. The new scale was renamed the Brief Assessment of Mealtime Behavior in Children (BAMBIC) for wider clinical usefulness. Parents completed questionnaires with the original BAMBI, the Child Eating Behavior Questionnaire, and the Parent Mealtime Action Scale. The revised BAMBIC developed with factor analysis had stronger psychometrics than the original scale and produced three subscales of feeding problems: Limited Variety, Food Refusal, and Disruptive Behavior. More Limited Variety was reported for boys than girls, and more Food Refusal was reported for younger children and children with special needs. C1 [Hendy, Helen M.] Psychol Program, Schuylkill Haven, PA USA. [Seiverling, Laura] St Marys Hosp Children, Ctr Pediat Feeding Disorders, Bayside, NY USA. [Lukens, Colleen T.] Childrens Hosp Philadelphia, Dept Child & Adolescent Psychiat & Behav Sci, Philadelphia, PA 19104 USA. [Williams, Keith E.] Penn State Hershey Med Ctr, Feeding Program, Hershey, PA 17033 USA. RP Williams, KE (reprint author), Feeding Program, 905 W Governor Rd, Hershey, PA 17033 USA. 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Health Care PD JAN 1 PY 2013 VL 42 IS 1 BP 1 EP 14 DI 10.1080/02739615.2013.753799 PG 14 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA 095OQ UT WOS:000315344300001 ER PT J AU Lerner, MD McPartland, JC Morris, JP AF Lerner, Matthew D. McPartland, James C. Morris, James P. TI Multimodal emotion processing in autism spectrum disorders: An event-related potential study SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE LA English DT Article DE Autism spectrum disorder; ERP; N170; Emotion processing; Emotion recognition; Social cognition ID FACIAL AFFECT RECOGNITION; HIGH-FUNCTIONING AUTISM; ASPERGERS-SYNDROME; SCHIZOPHRENIC-PATIENTS; FACE RECOGNITION; CHILDREN; ERP; PERCEPTION; BRAIN; EXPRESSIONS AB This study sought to describe heterogeneity in emotion processing in autism spectrum disorders (ASD) via electrophysiological markers of perceptual and cognitive processes that underpin emotion recognition across perceptual modalities. Behavioral and neural indicators of emotion processing were collected, as event-related potentials (ERPs) were recorded while youth with ASD completed a standardized facial and vocal emotion identification task. Children with ASD exhibited impaired emotion recognition performance for adult faces and child voices, with a subgroup displaying intact recognition. Latencies of early perceptual ERP components, marking social information processing speed, and amplitudes of subsequent components reflecting emotion evaluation, each correlated across modalities. Social information processing speed correlated with emotion recognition performance, and predicted membership in a subgroup with intact adult vocal emotion recognition. Results indicate that the essential multimodality of emotion recognition in individuals with ASDs may derive from early social information processing speed, despite heterogeneous behavioral performance; this process represents a novel social-emotional intervention target for ASD. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Lerner, Matthew D.; Morris, James P.] Univ Virginia, Dept Psychol, Charlottesville, VA 22904 USA. [Lerner, Matthew D.] Univ Chicago, Dept Psychiat & Behav Neurosci, Chicago, IL 60637 USA. [McPartland, James C.] Yale Univ, Ctr Child Study, New Haven, CT 06520 USA. RP Lerner, MD (reprint author), Univ Virginia, Dept Psychol, 102 Gilmer Hall,POB 400400, Charlottesville, VA 22904 USA. EM mlerner@virginia.edu; james.mcpartland@yale.edu; jpmorris@virginia.edu FU American Psychological Foundation; Jefferson Scholars Foundation; International Max Planck Research School; American Psychological Association and Association for Psychological Science; NIMH [R00MH079617-03, K23MH086785, R21MH091309]; NARSAD Atherton Young Investigator Award FX This research was supported by Fellowships from the American Psychological Foundation, Jefferson Scholars Foundation, and International Max Planck Research School, and grants from the American Psychological Association and Association for Psychological Science to Matthew D. Lerner, and NIMH grant R00MH079617-03 to James P. Morris. James C. McPartland was supported by NIMH K23MH086785, NIMH R21MH091309 and a NARSAD Atherton Young Investigator Award. Portions of this article were presented at the 2011 American Academy of Child and Adolescent Psychiatry/Canadian Academy of Child and Adolescent Psychiatry Joint Annual Meeting. We would like to thank the children and parents who participated, as well as the research assistants who aided with data collection. 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Cogn. Neurosci. PY 2013 VL 3 BP 11 EP 21 DI 10.1016/j.dcn.2012.08.005 PG 11 WC Neurosciences SC Neurosciences & Neurology GA 095EU UT WOS:000315318300002 PM 23245216 ER PT J AU Michalska, KJ Kinzler, KD Decety, J AF Michalska, Kalina J. Kinzler, Katherine D. Decety, Jean TI Age-related sex differences in explicit measures of empathy do not predict brain responses across childhood and adolescence SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE LA English DT Article DE Developmental neuroscience; Affective neuroscience; Empathy; Sex differences ID HIGH-FUNCTIONING AUTISM; GENDER-DIFFERENCES; FETAL TESTOSTERONE; INDIVIDUAL-DIFFERENCES; UNDERLYING EMPATHY; ASPERGER-SYNDROME; EYES TEST; PAIN; ACCURACY; OTHERS AB Behavioral research indicates that human females are more empathic than males, a disparity that widens from childhood to adulthood. Nevertheless, the extent to which such sex differences are an artifact of self-report indices is unclear. The present study compared age-related sex differences in both self-report and neurophysiological measures of empathic arousal, a primary building block of empathy. Participants included sixty-five 4-17-year-old children (mean 11.5 +/- 3.5 years) who completed the Bryant Empathy Scale, and were scanned while viewing animated clips depicting people being hurt. Female participants scored higher than males on self-reported dispositional empathy, a difference that increased with age. In contrast, no sex-related differential changes were detected in hemodynamic responses or in pupil dilation, with no interaction between sex and age. Results suggest a dissociation between explicit ratings and neurophysiological measures of empathic arousal. Past observed sex differences in empathy may reflect females' greater willingness to report empathic experiences. Findings are also discussed in terms of discrepancies in the methods used to assess affective responding and how they relate to the multi-faceted construct of empathy. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Michalska, Kalina J.; Kinzler, Katherine D.; Decety, Jean] Univ Chicago, Dept Psychol, Chicago, IL 60637 USA. [Decety, Jean] Univ Chicago, Dept Psychiat, Chicago, IL 60637 USA. RP Michalska, KJ (reprint author), Univ Chicago, Dept Psychol, Chicago, IL 60637 USA. EM kalina@uchicago.edu FU NSF [BCS-0718480] FX The study was supported by an NSF award (BCS-0718480) to jean Decety. We are grateful to Alexa Tompary for assistance in scanning and data analysis. We thank three anonymous reviewers for their constructive comments. 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Cogn. Neurosci. PY 2013 VL 3 BP 22 EP 32 DI 10.1016/j.dcn.2012.08.001 PG 11 WC Neurosciences SC Neurosciences & Neurology GA 095EU UT WOS:000315318300003 PM 23245217 ER PT J AU Hamilton, AFD AF Hamilton, Antonia F. de C. TI Reflecting on the mirror neuron system in autism: A systematic review of current theories SO DEVELOPMENTAL COGNITIVE NEUROSCIENCE LA English DT Review DE Autism; Mirror neuron system; Imitation; Social cognition ID SPECTRUM DISORDERS; MAGNETIC STIMULATION; CORTICAL ACTIVATION; MOTOR FACILITATION; SOCIAL-INTERACTION; ALE METAANALYSIS; STRUCTURAL MRI; MU-SUPPRESSION; IMITATION; CHILDREN AB There is much interest in the claim that dysfunction of the mirror neuron system in individuals with autism spectrum condition causes difficulties in social interaction and communication. This paper systematically reviews all published studies using neuroscience methods (EEG/MEG/TMS/eyetracking/EMG/fMRI) to examine the integrity of the mirror system in autism. 25 suitable papers are reviewed. The review shows that current data are very mixed and that studies using weakly localised measures of the integrity of the mirror system are hard to interpret. The only well localised measure of mirror system function is fMRI. In fMRI studies, those using emotional stimuli have reported group differences, but studies using non-emotional hand action stimuli do not. Overall, there is little evidence for a global dysfunction of the mirror system in autism. Current data can be better understood under an alternative model in which social top-down response modulation is abnormal in autism. The implications of this model and future research directions are discussed. (C) 2012 Elsevier Ltd. All rights reserved. C1 Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, England. RP Hamilton, AFD (reprint author), Univ Nottingham, Sch Psychol, Nottingham NG7 2RD, England. EM antonia.hamilton@nottingham.ac.uk RI Hamilton, Antonia/B-3612-2008 OI Hamilton, Antonia/0000-0001-8000-0219 FU Waterloo Foundation; ESRC FX The Hamilton lab receives funding from the Waterloo Foundation and the ESRC. I would like to thank Uta Frith for helpful comments on the manuscript. The author has no conflicts of interest. 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Cogn. Neurosci. PY 2013 VL 3 BP 91 EP 105 DI 10.1016/j.dcn.2012.09.008 PG 15 WC Neurosciences SC Neurosciences & Neurology GA 095EU UT WOS:000315318300011 PM 23245224 ER PT J AU Mathersul, D McDonald, S Rushby, JA AF Mathersul, Danielle McDonald, Skye Rushby, Jacqueline A. TI Psychophysiological correlates of social judgement in high-functioning adults with autism spectrum disorder SO INTERNATIONAL JOURNAL OF PSYCHOPHYSIOLOGY LA English DT Article DE Autism; Asperger's; Trust; Approachability; Skin conductance; Arousal ID CEREBRAL-BLOOD-FLOW; ASPERGER-SYNDROME; FACIAL EXPRESSIONS; ORIENTING RESPONSE; SKIN-CONDUCTANCE; PREFRONTAL CORTEX; HEART-RATE; CHILDREN; EMOTION; FACE AB Neural structures involved in social cognition (e.g., amygdala, orbitofrontal cortex) have been implicated in judgements of trustworthiness. These regions are also functionally atypical in individuals with autism spectrum disorders (ASDs). Studies investigating judgements of trustworthiness in ASDs have suggested possible disruptions in the allocation of significance to social stimuli. Concurrent measures of autonomic responses provide further insight into these deficits, given their role in the direction of attention and allocation of significance. Thirty high-functioning adults with ASDs and 31 non-clinical controls viewed neutral images piloted as most "positive" and "negative." Skin conductance (SCR, SCL) and evoked cardiac deceleration (ECD) were recorded. Adults with ASDs did not differ from controls in ratings of trustworthiness. However, they displayed atypical SCRs, providing further support for a disruption in the allocation of emotional significance. (C) 2012 Elsevier B.V. All rights reserved. C1 [Mathersul, Danielle; McDonald, Skye; Rushby, Jacqueline A.] Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia. RP Mathersul, D (reprint author), Univ New S Wales, Sch Psychol, Sydney, NSW 2052, Australia. EM dmathersul@psy.unsw.edu.au RI McDonald, Skye/G-4118-2014 OI McDonald, Skye/0000-0003-0723-6094 FU Australian Postgraduate Award (APA); Australian National Health and Medical Research Council (NHMRC) [APP1013796]; Australian NHMRC FX DM is supported by an Australian Postgraduate Award (APA). JAR is supported by an Australian National Health and Medical Research Council (NHMRC) Postdoctoral Fellowship (Clinical Training; APP1013796). This research was funded by the Australian NHMRC. We would like to thank the individuals who gave their time to participate in this study and the clinicians who assisted with participant recruitment. 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J. Psychophysiol. PD JAN PY 2013 VL 87 IS 1 BP 88 EP 94 DI 10.1016/j.ijpsycho.2012.11.005 PG 7 WC Psychology, Biological; Neurosciences; Physiology; Psychology; Psychology, Experimental SC Psychology; Neurosciences & Neurology; Physiology GA 093GF UT WOS:000315179000012 PM 23183316 ER PT J AU Cardoso, RRD Ponte, M Leite, V AF De Almeida Cardoso, Roberto R. Ponte, Marina Leite, Vanuza TI Protective Action of Camel Milk in Mice Inoculated with Salmonella enterica SO ISRAEL MEDICAL ASSOCIATION JOURNAL LA English DT Article DE camel milk; cow's milk; immunoglobulins; salmonellosis; infection ID LACTOFERRIN; ANTIBODIES; PROTEINS; CHILDREN; DOMAIN AB Background: In some countries people believe that camel milk can protect against various aggressors, whether due to infections, diabetes, or even autism. Little has been scientifically demonstrated regarding the veracity of these beliefs. Objectives: To study the anti-infectious action of camel milk. Methods: Fifty mice were divided into 5 groups of 10 animals each: 3 control groups and 2 test groups. Except for one of the control groups, all groups were intraperitoneally inoculated with a strain of Salmonella enterica. The rations in the test groups were supplemented with camel milk or cow milk. Results: A statistically significant survival was observed in the mice supplemented with camel milk. The death rate after Salmonella inoculation was only 40% in the study group, as compared to 100% in the control groups where the mice were not protected, and 80% in the group supplemented with cow milk and injected with Salmonella. Conclusions: Camel milk is an excellent nutrient and because of its specific properties, particularly its anti-infectious action, should be used to replace other milks. IMAJ 2013; 15:5-8 C1 [De Almeida Cardoso, Roberto R.] Fac Integradas Planalto Cent, FACIPLAC, Dept Allergy & Immunopathol, Brasilia, DF, Brazil. 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Med. Assoc. J. PD JAN PY 2013 VL 15 IS 1 BP 5 EP 8 PG 4 WC Medicine, General & Internal SC General & Internal Medicine GA 095AV UT WOS:000315307800001 PM 23484230 ER PT J AU Yagil, R AF Yagil, Reuven TI Camel Milk and its Unique Anti-Diarrheal Properties SO ISRAEL MEDICAL ASSOCIATION JOURNAL LA English DT Editorial Material DE immunoglobulins; protective proteins; Johne's disease; casomorphine; autism syndrome; Crohn's disease; retrovirus ID VACCINATION C1 [Yagil, Reuven] Ben Gurion Univ Negev, Fac Hlth Sci, IL-84105 Beer Sheva, Israel. RP Yagil, R (reprint author), 14 Bar Kochba St, IL-84231 Beer Sheva, Israel. 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Med. Assoc. J. PD JAN PY 2013 VL 15 IS 1 BP 35 EP 36 PG 2 WC Medicine, General & Internal SC General & Internal Medicine GA 095AV UT WOS:000315307800008 PM 23484237 ER PT J AU Csaba, G AF Csaba, Gyoergy TI Hormonal imprinting in the central nervous system: causes and consequences SO ORVOSI HETILAP LA Hungarian DT Article DE hormonal imprinting; faulty imprinting; brain; autism; schizophrenia ID NEONATAL BENZPYRENE TREATMENT; BRAIN-SEROTONIN CONTENT; VITAMIN-D TREATMENT; RAT IMMUNE CELLS; ADULT MALE RATS; SEXUAL-BEHAVIOR; SOCIAL-BEHAVIOR; FEMALE RATS; PERINATAL EXPOSURE; LATE PREGNANCY AB Hormonal imprinting in the central nervous system: causes and consequences The notion of the perinatal "hormonal imprinting" has been published at first in 1980 and since that time it spred expansively. The imprintig develops at the first encounter between the developing receptor and the target hormone - possibly by the alteration of the methylation pattern of DNA - and it is transmitted to the progeny generations of the cell. This is needed for the complete development of the receptor's binding capacity. However, molecules similar to the target hormone (hormone-analogues, drugs, chemicals, environmental pollutants) can also bind to the developing receptor, causing faulty imprinting with life-long consequences. This can promote pathological conditions. Later it was cleared that in other critical periods such as puberty, imprinting also can be provoked, even in any age in differentiating cells. The central nervous system (brain) also can be mistakenly imprinted, which durably influences the dopaminergic, serotonergic and noradrenergic system and this can be manifested - in animal experiments - in alterations of the sexual and social behavior. In our modern age the faulty hormonal imprintig is inavoidable because of the mass of medicaments, chemicals, the presence of hormone-like materials (e. g. soya phytosteroids) in the food, and environmental pollutants. The author especially emphasizes the danger of oxytocin, as a perinatal imprinter, as it is used very broadly and can basically influence the emotional and social spheres and the appearance of certain diseases such as auitism, schizophrenia and parkinsonism. The danger of perinatal imprinters is growing, considering their effects on the human evolution. Orv. Hetil., 2013, 154, 128-135. C1 [Csaba, Gyoergy] Semmelweis Egyet, Altalanos Orvostudomanyi Kar, Sejt & Immunbiol Int, Budapest, Hungary. RP Csaba, G (reprint author), Pf 370, H-1445 Budapest, Hungary. 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Malecka, I. Suchanecka, A. Bienkowski, P. Samochowiec, J. TI Family-Based and Case-Control Study of Glutamate Receptor GRIK3 Ser310Ala Polymorphism in Alcohol Dependence SO EUROPEAN ADDICTION RESEARCH LA English DT Article DE Alcohol dependence; Transmission disequilibrium test; Case-control study; Kainate receptor; GRIK3 gene ID DELIRIUM-TREMENS; GLUTAMATE-RECEPTOR-6 GENE; FUNCTIONAL POLYMORPHISM; ASSOCIATION; INDIVIDUALS; LINKAGE; AUTISM AB Aim: The aim of this study was to evaluate the role of the glutamate receptor subunit-7 (GluR7, GRIK 3) rs6691840 (Ser310Ala, T928G) in the pathogenesis of alcohol dependence (AD). Methods: DNA was provided from AD patients (n = 209) and healthy control subjects (n = 308) all of Polish descent. The history of alcoholism was obtained using the Polish version of the SSAGA (Semi-Structured Assessment for the Genetics of Alcoholism). We conducted case-control association study and transmission disequilibrium test (TDT). GRIK3 functional polymorphism was genotyped by the PCR-RFLP method. Results: Analyses revealed that polymorphism Ser310Ala of GRIK3 gene is not associated with AD or any of its subgroups. TDT reveled an adequate transmission of both alleles in the group of alcohol families. Conclusions: These findings replicate and extend our previous research results that do not support the hypothesis of the role of rs6691840 in the pathogenesis of AD. Copyright (C) 2012 S. Karger AG, Basel C1 [Grzywacz, A.; Malecka, I.; Suchanecka, A.; Samochowiec, J.] Pomeranian Med Univ, Dept Psychiat, PL-71460 Szczecin, Poland. [Bienkowski, P.] Inst Psychiat & Neurol, Dept Pharmacol, Warsaw, Poland. RP Samochowiec, J (reprint author), Pomeranian Med Univ, Dept Psychiat, Ul Broniewskiego 26, PL-71460 Szczecin, Poland. 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Addict. Res. PY 2013 VL 19 IS 1 BP 55 EP 59 DI 10.1159/000341714 PG 5 WC Substance Abuse; Psychiatry SC Substance Abuse; Psychiatry GA 087KA UT WOS:000314759000008 PM 23006490 ER PT J AU Kim, P Park, JH Kwon, KJ Kim, KC Kim, HJ Lee, JM Kim, HY Han, SH Shin, CY AF Kim, Pitna Park, Jin Hee Kwon, Kyoung Ja Kim, Ki Chan Kim, Hee Jin Lee, Jong Min Kim, Hahn Young Han, Seol-Heui Shin, Chan Young TI Effects of Korean red ginseng extracts on neural tube defects and impairment of social interaction induced by prenatal exposure to valproic acid SO FOOD AND CHEMICAL TOXICOLOGY LA English DT Article DE Korean red ginseng; Autism spectrum disorder; Valproic acid; Social impairment; Crooked tail ID AUTISM SPECTRUM DISORDERS; PANAX-GINSENG; STEM-CELLS; NEURONAL DIFFERENTIATION; PROGENITOR CELLS; BEHAVIORAL ALTERATIONS; SPINA-BIFIDA; GUINEA-PIGS; FOLIC-ACID; RATS AB Ginseng is one of the most widely used medicinal plants, which belongs to the genus Panax. Compared to uncured white ginseng, red ginseng has been generally regarded to produce superior pharmacological effects with lesser side/adverse effects, which made it popular in a variety of formulation from tea to oriental medicine. Using the prenatal valproic acid (VPA)-injection model of autism spectrum disorder (ASD) in rats, which produces social impairrment and altered seizure susceptibility as in human ASD patients as well as mild neural tube defects like crooked tail phenotype, we examined whether chronic administration of red ginseng extract may rescue the social impairment and crooked tail phenotype in prenatally VPA-exposed rat offspring. VPA-induced impairment in social interactions tested using sociability and social preference paradigms as well as crooked tail phenotypes were significantly improved by administration of Korean red ginseng (KRG) in a dose dependent manner. Rat offspring prenatally exposed to VPA showed higher sensitivity to electric shock seizure and increased locomotor activity in open-field test. KRG treatment reversed abnormal locomotor activity and sensitivity to electric shock to control level. These results suggest that KRG may modulate neurobehavioral and structural organization of nervous system adversely affected by prenatal exposure to VPA. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Kim, Pitna; Park, Jin Hee; Kwon, Kyoung Ja; Kim, Ki Chan; Kim, Hee Jin; Lee, Jong Min; Kim, Hahn Young; Han, Seol-Heui; Shin, Chan Young] Konkuk Univ, Sch Med, Dept Neurosci, Seoul 143701, South Korea. [Kim, Pitna; Park, Jin Hee; Kwon, Kyoung Ja; Kim, Ki Chan; Kim, Hee Jin; Lee, Jong Min; Kim, Hahn Young; Han, Seol-Heui; Shin, Chan Young] Konkuk Univ, Neurosci Res Ctr, Inst SMART IABS, Seoul 143701, South Korea. [Shin, Chan Young] Konkuk Univ, Sch Med, Dept Pharmacol, Seoul 143701, South Korea. [Kim, Hee Jin] Sahmyook Univ, Coll Pharm, Dept Pharmacol, Seoul 139742, South Korea. RP Shin, CY (reprint author), Konkuk Univ, Dept Pharmacol, Sch Med, 1 Hwayang Dong, Seoul 143701, South Korea. EM chanyshin@kku.ac.kr FU Korean Society of Ginseng; Korea Ginseng Corporation FX This work was supported by the 2011 grant from The Korean Society of Ginseng funded by Korea Ginseng Corporation. 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Toxicol. PD JAN PY 2013 VL 51 BP 288 EP 296 DI 10.1016/j.fct.2012.10.011 PG 9 WC Food Science & Technology; Toxicology SC Food Science & Technology; Toxicology GA 091VQ UT WOS:000315078300036 PM 23104247 ER PT J AU Andersson, GW Miniscalco, C Johansson, U Gillberg, C AF Andersson, Gunilla Westman Miniscalco, Carmela Johansson, Ulrika Gillberg, Christopher TI Autism in Toddlers: Can Observation in Preschool Yield the Same Information as Autism Assessment in a Specialised Clinic? SO SCIENTIFIC WORLD JOURNAL LA English DT Article ID DIAGNOSTIC OBSERVATION SCHEDULE; SPECTRUM DISORDERS; JOINT ATTENTION; CHILDREN; COMMUNICATION; MANAGEMENT AB We wanted to know whether preschool observation of children suspected of suffering from autism can provide the same information about core autism symptoms as the Autism Diagnostic Observation Schedule (ADOS) performed in a clinic. Forty 2-4-year-old children (9 girls, 31 boys), referred for assessment of suspected autism spectrum disorder participated in the study. The symptom areas covered by the ADOS algorithm were scored by an education specialist after free-field observation of each child in the preschool without using the prescribed ADOS materials. The ADOS was then completed in a clinic setting by examiners blind to the preschool results. Excellent agreement across results obtained at the two different types/settings of observations was found. The only significant difference found was with regard to spontaneous initiation of joint attention. The present study does not address the issue of whether or not one of the methods used is superior to the other when it comes to determining the "true" level of "autism problems" in these children. However, it is of interest that free-field preschool observation of children with suspected autism using a structured checklist yields very similar information as that obtained at ADOS assessment performed in a clinic setting. C1 [Andersson, Gunilla Westman; Miniscalco, Carmela; Gillberg, Christopher] Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, S-41119 Gothenburg, Sweden. [Johansson, Ulrika] Queen Silvia Childrens Hosp, S-41118 Gothenburg, Sweden. RP Andersson, GW (reprint author), Univ Gothenburg, Sahlgrenska Acad, Gillberg Neuropsychiat Ctr, Kungsgatan 12, S-41119 Gothenburg, Sweden. EM gunilla.andersson@gnc.gu.se FU FoU-Committee in Gothenburg; South Bohuslan County Council; Annmari and Per Ahlqvist Foundation; theWilhelm and Martina Lundgren Foundation; Swedish Science Council [B41-f 1883/09] FX The authors are grateful to the children, parents, and staff in preschools and at the CNC for their help and support at various stages of the study. The authors would also like to acknowledge the contributions of statistician Nils-Gunnar Pehrsson, Statistiska Konsultgruppen, and Jakob Asberg, Ph.D., Department of Psychology, University of Gothenburg, for support with the statistics. This study was supported by grants from the FoU-Committee in Gothenburg, South Bohuslan County Council, the Annmari and Per Ahlqvist Foundation, theWilhelm and Martina Lundgren Foundation, and from the Swedish Science Council (Grant no. B41-f 1883/09) for Christopher Gillberg. 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World J. PY 2013 AR 384745 DI 10.1155/2013/384745 PG 7 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA 090EA UT WOS:000314960800001 ER PT J AU Connolly, JJ Glessner, JT Hakonarson, H AF Connolly, John J. Glessner, Joseph T. Hakonarson, Hakon TI A Genome-Wide Association Study of Autism Incorporating Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale SO CHILD DEVELOPMENT LA English DT Article ID PERVASIVE DEVELOPMENTAL DISORDERS; CORTICAL PYRAMIDAL NEURONS; COPY-NUMBER VARIATIONS; SPECTRUM DISORDERS; NEUROPSYCHIATRIC CONDITIONS; POTASSIUM CHANNELS; NUCLEUS-ACCUMBENS; CHILDREN; GENE; EXPRESSION AB Efforts to understand the causes of autism spectrum disorders (ASDs) have been hampered by genetic complexity and heterogeneity among individuals. One strategy for reducing complexity is to target endophenotypes, simpler biologically based measures that may involve fewer genes and constitute a more homogenous sample. A genome-wide association study of 2,165 participants (mean age = 8.95 years) examined associations between genomic loci and individual assessment items from the Autism Diagnostic InterviewRevised, Autism Diagnostic Observation Schedule, and Social Responsiveness Scale. Significant associations with a number of loci were identified, including KCND2 (overly serious facial expressions), NOS2A (loss of motor skills), and NELL1 (faints, fits, or blackouts). These findings may help prioritize directions for future genomic efforts. C1 [Hakonarson, Hakon] Childrens Hosp Philadelphia, Ctr Appl Genom, Abramson Res Ctr, Philadelphia, PA 19104 USA. [Hakonarson, Hakon] Univ Penn, Sch Med, Philadelphia, PA 19104 USA. 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PD JAN-FEB PY 2013 VL 84 IS 1 BP 17 EP 33 DI 10.1111/j.1467-8624.2012.01838.x PG 17 WC Psychology, Educational; Psychology, Developmental SC Psychology GA 078PQ UT WOS:000314112000002 PM 22935194 ER PT J AU Zhang, Y Haraksingh, R Grubert, F Abyzov, A Gerstein, M Weissman, S Urban, AE AF Zhang, Ying Haraksingh, Rajini Grubert, Fabian Abyzov, Alexej Gerstein, Mark Weissman, Sherman Urban, Alexander E. TI Child Development and Structural Variation in the Human Genome SO CHILD DEVELOPMENT LA English DT Review ID COPY-NUMBER VARIATION; AUTISM SPECTRUM DISORDERS; DEFICIT HYPERACTIVITY DISORDER; 22Q11.2 DELETION SYNDROME; SEGMENTAL DUPLICATIONS; WILLIAMS-SYNDROME; WIDE ANALYSIS; HUMAN-DISEASE; DE-NOVO; GENE AB Structural variation of the human genome sequence is the insertion, deletion, or rearrangement of stretches of DNA sequence sized from around 1,000 to millions of base pairs. Over the past few years, structural variation has been shown to be far more common in human genomes than previously thought. Very little is currently known about the effects of structural variation on normal child development, but such effects could be of considerable significance. This review provides an overview of the phenomenon of structural variation in the human genome sequence, describing the novel genomics technologies that are revolutionizing the way structural variation is studied and giving examples of genomic structural variations that affect child development. C1 [Zhang, Ying; Abyzov, Alexej; Gerstein, Mark; Weissman, Sherman] Yale Univ, New Haven, CT 06520 USA. [Urban, Alexander E.] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Palo Alto, CA 94305 USA. RP Urban, AE (reprint author), Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, 1050A Arastradero Rd,Room A233A, Palo Alto, CA 94305 USA. 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CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays, both of which are useful for detection of genomic copy number variants (CNV) such as microdeletions and microduplications. The frequency of disease-causing CNVs is highest (20%25%) in children with moderate to severe intellectual disability accompanied by malformations or dysmorphic features. Disease-causing CNVs are found in 5%10% of cases of autism, being more frequent in severe phenotypes. CMA has replaced Giemsa-banded karyotype as the first-tier test for genetic evaluation of children with developmental and behavioral disabilities. C1 Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA. RP Beaudet, AL (reprint author), Baylor Coll Med, Dept Mol & Human Genet, 1 Baylor Plaza,BCM225, Houston, TX 77030 USA. 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J., 1978, J CLIN PATHOL, V7, P267 NR 75 TC 8 Z9 8 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0009-3920 J9 CHILD DEV JI Child Dev. PD JAN-FEB PY 2013 VL 84 IS 1 BP 121 EP 132 DI 10.1111/cdev.12050 PG 12 WC Psychology, Educational; Psychology, Developmental SC Psychology GA 078PQ UT WOS:000314112000009 PM 23311723 ER PT J AU Isaksen, J Bryn, V Diseth, TH Heiberg, A Schjolberg, S Skjeldal, OH AF Isaksen, Jorn Bryn, Vesna Diseth, Trond H. Heiberg, Arvid Schjolberg, Synnve Skjeldal, Ola H. TI Children with autism spectrum disorders - The importance of medical investigations SO EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY LA English DT Article DE Autism spectrum disorder; Medical conditions; Comorbidity ID PERVASIVE DEVELOPMENTAL DISORDERS; BIRTH COMPLICATIONS; POPULATION; PREVALENCE; INDIVIDUALS; DIAGNOSIS AB Background: Considerable knowledge about medical comorbidity in cases of Autism Spectrum Disorders (ASD) is available, still it is not well established how extensive the medical investigations should be in individual cases. The aim is to explore proportions of possible specific medical conditions in ASD. Methods: 79 subjects went through extensive medical evaluations according to pre-defined procedures, including medical and developmental history, physical and biomedical investigations. Results: Clinical neurological findings were quite common, and we found a high number of pathological findings in the additional medical investigations. Our study revealed that these pathological deviations occurred more frequently in patients with childhood autism than in the other diagnostic sub-groups, the exception were chromosomal findings which occurred more often in patients not-diagnosed with childhood autism. Conclusion: Medical and laboratory investigations should still be performed as a consequence of the patient's history, clinical presentations or family history. We should basically continue the use of non-routine and invasive procedures which do not put the patient at some unnecessary risk, in the absence of relevant clinical indications. (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved. C1 [Isaksen, Jorn] Innlandet Hosp Trust, Dept Habilitat, N-2609 Lillehammer, Norway. [Bryn, Vesna] Innlandet Hosp Trust, Hosp Lillehammer, Childrens Dept, N-2609 Lillehammer, Norway. [Diseth, Trond H.] Oslo Univ Hosp, Women & Childrens Div, Dept Clin Neurosci Children, Oslo, Norway. [Diseth, Trond H.] Univ Oslo, N-0316 Oslo, Norway. [Heiberg, Arvid] Oslo Univ Hosp, Dept Med Genet, Oslo, Norway. [Schjolberg, Synnve] Norwegian Inst Publ Hlth, Div Mental Hlth, Trondheim, Norway. [Skjeldal, Ola H.] Vestre Viken Hosp Trust, Women & Childrens Clin, Drammen, Norway. RP Isaksen, J (reprint author), Innlandet Hosp Trust, Dept Habilitat, Maihaugveien 4, N-2609 Lillehammer, Norway. EM jorn.isaksen@sykehuset-innlandet.no FU Innlandet Hospital Trust research foundation; Oslo University Hospital - Regional academic community for autism FX The authors gratefully acknowledge the assistance of paediatrician Dr. Pernille Tryli, research nurses Janne Fossnes and, Bente Grondalen and research assistant Romain Mertz, and the rest of the diagnostic teams at CHS's at Ottestad and Lillehammer. This study was supported by Innlandet Hospital Trust research foundation and Oslo University Hospital - Regional academic community for autism. 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J. Paediatr. Neurol. PD JAN PY 2013 VL 17 IS 1 BP 68 EP 76 DI 10.1016/j.ejpn.2012.08.004 PG 9 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 081NU UT WOS:000314329700011 PM 22954514 ER PT J AU Rucklidge, JJ Kaplan, BJ AF Rucklidge, Julia J. Kaplan, Bonnie J. TI Broad-spectrum micronutrient formulas for the treatment of psychiatric symptoms: a systematic review SO EXPERT REVIEW OF NEUROTHERAPEUTICS LA English DT Review DE ADHD; autism; depression; micronutrients; minerals; psychiatric; psychosis; review; treatment; vitamins ID PLACEBO-CONTROLLED-TRIAL; RANDOMIZED CONTROLLED-TRIAL; YOUNG-ADULT PRISONERS; OPEN-LABEL TRIAL; BIPOLAR DISORDER; COGNITIVE FUNCTION; DOUBLE-BLIND; MENTAL-HEALTH; VITAMIN/MINERAL SUPPLEMENT; MITOCHONDRIAL DISEASE AB Ingesting minerals and vitamins in combination makes physiological sense, and research on the use of broad-spectrum formulations for psychiatric symptoms is increasing rapidly. This review covers formulas consisting of at least four vitamins and/or minerals and includes four experimental designs: randomized controlled trials, open-label trials, case-control studies and case studies with within-subject crossovers. Nevertheless, there is evidence for the efficacy of micronutrients in the treatment of stress and antisocial behaviors as well as depressed mood in nonclinical and elderly populations. Many reports studied mood changes in healthy populations, making it difficult to generalize to clinical samples. There is also preliminary support for the treatment of autism with micronutrients. However, despite positive preliminary findings, there are less data available to support efficacy of micronutrient formulas in treating bipolar disorder, attention deficit-hyperactivity disorder and substance abuse/dependence and no clinical trials have been done with clinically depressed or anxious patient samples, psychosis or eating disorders. C1 [Rucklidge, Julia J.] Univ Canterbury, Dept Psychol, Christchurch 1, New Zealand. [Kaplan, Bonnie J.] Univ Calgary, Dept Paediat, Calgary, AB T2N 1N4, Canada. [Kaplan, Bonnie J.] Univ Calgary, Dept Community Hlth Sci, Calgary, AB, Canada. RP Rucklidge, JJ (reprint author), Univ Canterbury, Dept Psychol, Private Bag 4800, Christchurch 1, New Zealand. EM julia.rucklidge@canterbury.ac.nz FU Vic Davis Memorial Trust; University of Canterbury FX JJ Rucklidge has received a private donation from Marie Lockie and research support from the Vic Davis Memorial Trust. 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.JJ Rucklidge thanks the University of Canterbury for ongoing research support. BJ Kaplan thanks the Alberta Children's Hospital Research Institute for ongoing support. The authors thank Ellen Sole for help with compiling the tables. 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Abnormal melatonin signaling is associated with human disorders related to sleep, metabolism, and neurodevelopment. Here, we present the X-ray crystal structure of human N-acetyl serotonin methyltransferase (ASMT), the last enzyme of the melatonin biosynthesis pathway. The polypeptide chain of ASMT consists of a C-terminal domain, which is typical of other SAM-dependent O-methyltransferases, and an N-terminal domain, which intertwines several helices with another monomer to form the physiologically active dimer. Using radioenzymology, we analyzed 20 nonsynonymous variants identified through the 1000 genomes project and in patients with neuropsychiatric disorders. We found that the majority of these mutations reduced or abolished ASMT activity including one relatively frequent polymorphism in the Han Chinese population (N17K, rs17149149). Overall, we estimate that the allelic frequency of ASMT deleterious mutations ranges from 0.66% in Europe to 2.97% in Asia. Mapping of the variants on to the 3-dimensional structure clarifies why some are harmful and provides a structural basis for understanding melatonin deficiency in humans. C1 [Botros, Hany Goubran; Pagan, Cecile; Lemiere, Nathalie; Huguet, Guillaume; Bourgeron, Thomas] Inst Pasteur, Human Genet & Cognit Funct Unit, F-75015 Paris, France. [Botros, Hany Goubran; Pagan, Cecile; Lemiere, Nathalie; Huguet, Guillaume; Bourgeron, Thomas] Inst Pasteur, CNRS, URA Genes Synapses & Cognit 2182, F-75015 Paris, France. [Botros, Hany Goubran; Pagan, Cecile; Lemiere, Nathalie; Huguet, Guillaume; Bourgeron, Thomas] Univ Paris Diderot, Paris, France. [Legrand, Pierre; Shepard, William] Synchrotron SOLEIL, F-91192 Gif Sur Yvette, France. [Botros, Hany Goubran; Pagan, Cecile; Bondet, Vincent; Ben-Abdallah, Mariem; Lemiere, Nathalie; Huguet, Guillaume; Bellalou, Jacques; Beguin, Pierre; Bourgeron, Thomas] Inst Pasteur, F-75015 Paris, France. [Weber, Patrick; Haouz, Ahmed; Shepard, William] Inst Pasteur, CNRS, UMR3528, F-75015 Paris, France. [Maronde, Erik] Goethe Univ Frankfurt, Inst Anat 3, D-60054 Frankfurt, Germany. RP Bourgeron, T (reprint author), Inst Pasteur, 25 Rue Docteur Roux, F-75015 Paris, France. EM william.shepard@synchrotron-soleil.fr; thomasb@pasteur.fr FU Institut Pasteur; University Paris Diderot; CNRS; Fondation Orange; ANR [ANR-08-MNPS-037-01 - SynGen]; Neuron-ERANET; Fondation FondaMentale; Fondation Recherche Medicale; ESRF; Synchrotrons [20080516] FX This work was supported by the Institut Pasteur, University Paris Diderot, CNRS, Fondation Orange, ANR (ANR-08-MNPS-037-01 - SynGen), Neuron-ERANET (EUHF-AUTISM), Fondation FondaMentale, Fondation Recherche Medicale, the ESRF and Synchrotrons (SOLEIL Proposal 20080516, ESRF at Grenoble). 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However, it remains unknown if MHCI proteins are present in the mammalian brain before birth. Here, we show that MHCI proteins are widely expressed in the developing mouse central nervous system at mid-gestation (E9.5-10.5). MHCI is strongly expressed in several regions of the prenatal brain, including the neuroepithelium and olfactory placode. MHCI is expressed by neural progenitors at these ages, as identified by co-expression in cells positive for neuron-specific class III beta-tubulin (Tuj1) or for Pax6, a marker of neural progenitors in the dorsal neuroepithelium. MHCI is also co-expressed with nestin, a marker of neural stem/progenitor cells, in olfactory placode, but the co-localization is less extensive in other regions. MHCI is detected in the small population of post-mitotic neurons that are present at this early stage of brain development, as identified by co-expression in cells positive for neuronal microtubule-associated protein-2 (MAP2). 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Cell. Neurosci. PD JAN PY 2013 VL 52 BP 117 EP 127 DI 10.1016/j.mcn.2012.11.004 PG 11 WC Neurosciences SC Neurosciences & Neurology GA 085LB UT WOS:000314615200012 PM 23147111 ER PT J AU Brown, EC Wiersema, JR Pourtois, G Brune, M AF Brown, E. C. Wiersema, Jan Roelf Pourtois, Gilles Bruene, Martin TI Modulation of motor cortex activity when observing rewarding and punishing actions SO NEUROPSYCHOLOGIA LA English DT Article DE Action observation; Reward; Punishment; Observational learning; Mirror neurons ID SOCIAL COGNITION; PREMOTOR CORTEX; MIRROR NEURONS; MU-SUPPRESSION; EEG; SCHIZOPHRENIA; PERSPECTIVE; SYSTEM; AUTISM; RECOGNITION AB Interpreting others' actions is essential for understanding the intentions and goals in social interactions. Activity in the motor cortex is evoked when we see another person performing actions, which can also be influenced by the intentions and context of the observed action. No study has directly explored the influence of reward and punishment on motor cortex activity when observing others' actions, which is likely to have substantial relevance in different social contexts. In this experiment, EEG was recorded while participants watched movie clips of a person performing actions that led to a monetary reward, loss or no change for the observer. Using the EEG mu rhythm as an index of motor resonance, our results demonstrate that observation of rewarding actions produce significantly greater motor cortex activity than punishing or neutral actions, with punishing actions producing greater activity than neutral ones. In addition, the dynamic change in the mu rhythm over sensorimotor cortex is modulated by reward and punishment, with punishing actions producing a prolonged suppression. These findings demonstrate that the associated reward value of an observed action may be crucial in determining the strength of the representation of the action in the observer's brain. Consequently, reward and punishment is likely to drive observational learning through changes in the action observation network, and may also influence how we interpret, understand, engage in and empathize with others' actions in social interaction. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Brown, E. C.; Bruene, Martin] LWL Univ Hosp Bochum, Res Dept Cognit Neuropsychiat, D-44791 Bochum, Germany. [Brown, E. C.; Bruene, Martin] Ruhr Univ Bochum, IGSN, D-44801 Bochum, Germany. [Wiersema, Jan Roelf; Pourtois, Gilles] Univ Ghent, Dept Expt Clin & Hlth Psychol, B-9000 Ghent, Belgium. RP Brown, EC (reprint author), LWL Univ Hosp Bochum, Res Dept Cognit Neuropsychiat, Alexandrinenstr 1-3, D-44791 Bochum, Germany. EM elliot.c.brown@gmail.com RI Brown, Elliot/I-8137-2012 OI Brown, Elliot/0000-0002-0209-3293 FU International Brain Research Organisation (IBRO)-CEERC-WERC InEurope Travel Fellowship; European Research Council [200758]; Ghent University (BOF) [05Z01708] FX This study was supported by an International Brain Research Organisation (IBRO)-CEERC-WERC InEurope Travel Fellowship granted to the author ECB. The author GP is supported by grants from the European Research Council (Starting Grant #200758) and Ghent University (BOF Grant #05Z01708). 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Allison, C. Baron-Cohen, S. Chakrabarti, B. Hoekstra, R. A. TI Empathy and emotion recognition in people with autism, first-degree relatives, and controls SO NEUROPSYCHOLOGIA LA English DT Article DE Autism; Empathy; Emotion; Broader autism phenotype; Endophenotype ID HIGH-FUNCTIONING AUTISM; ASPERGER-SYNDROME; SPECTRUM DISORDERS; COGNITIVE PHENOTYPE; SEX-DIFFERENCES; BASIC EMOTIONS; CHILDREN; QUOTIENT; PERCEPTION; INFORMATION AB Empathy is the lens through which we view others' emotion expressions, and respond to them. In this study, empathy and facial emotion recognition were investigated in adults with autism spectrum conditions (ASC; N=314), parents of a child with ASC (N=297) and IQ-matched controls (N = 184). Participants completed a self-report measure of empathy (the Empathy Quotient [EQ]) and a modified version of the Karolinska Directed Emotional Faces Task (KDEF) using an online test interface. Results showed that mean scores on the EQ were significantly lower in fathers (p < 0.05) but not mothers (p > 0.05) of children with ASC compared to controls, whilst both males and females with ASC obtained significantly lower EQ scores (p < 0.001) than controls. On the KDEF, statistical analyses revealed poorer overall performance by adults with ASC (p < 0.001) compared to the control group. When the 6 distinct basic emotions were analysed separately, the ASC group showed impaired performance across five out of six expressions (happy, sad, angry, afraid and disgusted). Parents of a child with ASC were not significantly worse than controls at recognising any of the basic emotions, after controlling for age and non-verbal IQ (all p > 0.05). Finally, results indicated significant differences between males and females with ASC for emotion recognition performance (p < 0.05) but not for self-reported empathy (p > 0.05). These findings suggest that self-reported empathy deficits in fathers of autistic probands are part of the 'broader autism phenotype'. This study also reports new findings of sex differences amongst people with ASC in emotion recognition, as well as replicating previous work demonstrating empathy difficulties in adults with ASC. The use of empathy measures as quantitative endophenotypes for ASC is discussed. (C) 2012 Elsevier Ltd. All rights reserved. C1 [Sucksmith, E.; Hoekstra, R. A.] Open Univ, Dept Life Hlth & Chem Sci, Milton Keynes MK7 6AA, Bucks, England. [Allison, C.; Baron-Cohen, S.; Chakrabarti, B.] Univ Cambridge, Dept Psychiat, Autism Res Ctr, Cambridge, England. [Chakrabarti, B.] Univ Reading, Ctr Integrat Neurosci & Neurodynam, Sch Psychol & Clin Language Sci, Reading, Berks, England. RP Sucksmith, E (reprint author), Open Univ, Dept Life Hlth & Chem Sci, Milton Keynes MK7 6AA, Bucks, England. EM E.Sucksmith@open.ac.uk FU Open University; MRC UK; Wellcome Trust FX ES was supported by a PhD studentship from the Open University. SBC was supported by the MRC UK and the Wellcome Trust during the period of this study. BC is supported by the MRC UK. The study was conducted in association with the NIHR CLAHRC for NHS Cambridgeshire and Peterborough Foundation Trust. Preliminary data for this work was presented at the International Meeting for Autism Research, San Diego 2011. We are extremely grateful to all participants that took part. 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Ahituv, Nadav TI Function and Regulation of AUTS2, a Gene Implicated in Autism and Human Evolution SO PLOS GENETICS LA English DT Article ID CONSERVED NONCODING SEQUENCES; COPY NUMBER VARIATION; IN-VIVO; TRANSLOCATION BREAKPOINT; SPECTRUM DISORDERS; ZEBRAFISH; GENOME; IDENTIFICATION; EXPRESSION; ENHANCERS AB Nucleotide changes in the AUTS2 locus, some of which affect only noncoding regions, are associated with autism and other neurological disorders, including attention deficit hyperactivity disorder, epilepsy, dyslexia, motor delay, language delay, visual impairment, microcephaly, and alcohol consumption. In addition, AUTS2 contains the most significantly accelerated genomic region differentiating humans from Neanderthals, which is primarily composed of noncoding variants. However, the function and regulation of this gene remain largely unknown. To characterize auts2 function, we knocked it down in zebrafish, leading to a smaller head size, neuronal reduction, and decreased mobility. To characterize AUTS2 regulatory elements, we tested sequences for enhancer activity in zebrafish and mice. We identified 23 functional zebrafish enhancers, 10 of which were active in the brain. Our mouse enhancer assays characterized three mouse brain enhancers that overlap an ASD-associated deletion and four mouse enhancers that reside in regions implicated in human evolution, two of which are active in the brain. Combined, our results show that AUTS2 is important for neurodevelopment and expose candidate enhancer sequences in which nucleotide variation could lead to neurological disease and human-specific traits. C1 [Oksenberg, Nir; Ahituv, Nadav] Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA. [Oksenberg, Nir; Stevison, Laurie; Wall, Jeffrey D.; Ahituv, Nadav] Univ Calif San Francisco, Inst Human Genet, San Francisco, CA 94143 USA. [Wall, Jeffrey D.] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94143 USA. RP Oksenberg, N (reprint author), Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94143 USA. EM nadav.ahituv@ucsf.edu FU Simons Foundation (SFARI) [256769]; NHGRI [R01HG005058, R01 HG005226, R01HG006768]; NICHD [R01HD059862]; NINDS [R01NS079231]; NIGMS [GM61390]; NIDDK [R01DK090382]; Genentech Predoctoral fellowship; Dennis Weatherstone Pre-doctoral Fellowship from Autism Speaks; NICHD FX This research was supported by a grant from the Simons Foundation (SFARI #256769 to NA), NHGRI grant numbers R01HG005058 (NA) and R01 HG005226 (LS and JDW), NICHD grant number R01HD059862, and NINDS grant number R01NS079231. NA is also supported by NIGMS award number GM61390, NHGRI award number R01HG006768, and NIDDK award number R01DK090382. NO was supported in part by a Genentech Predoctoral fellowship and is supported in part by the Dennis Weatherstone Pre-doctoral Fellowship from Autism Speaks. The content is solely the responsibility of the authors and does not necessarily represent the official views of the Simons Foundation, Autism Speaks, NIH, NICHD, NHGRI, NINDS, NIDDK, or NIGMS. The monoclonal antibody znp-1 developed by B. Trevarrow was obtained from the Developmental Studies Hybridoma Bank developed under the auspices of the NICHD and maintained by The University of Iowa, Department of Biology, Iowa City, Iowa, United States of America. 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 JAN PY 2013 VL 9 IS 1 AR e1003221 DI 10.1371/journal.pgen.1003221 PG 9 WC Genetics & Heredity SC Genetics & Heredity GA 085YZ UT WOS:000314651500062 PM 23349641 ER PT J AU Baganz, NL Blakely, RD AF Baganz, Nicole L. Blakely, Randy D. TI A Dialogue between the Immune System and Brain, Spoken in the Language of Serotonin SO ACS CHEMICAL NEUROSCIENCE LA English DT Review DE Serotonin; serotonin transporter; immune system; P38 MAPK; interleukin-1 beta; depression ID CENTRAL-NERVOUS-SYSTEM; NECROSIS-FACTOR-ALPHA; T-LYMPHOCYTE FUNCTION; NATURAL-KILLER-CELLS; FUNCTIONAL ANATOMICAL ANALYSIS; OBSESSIVE-COMPULSIVE DISORDER; TRANSPORTER GENE POLYMORPHISM; PERIPHERAL-BLOOD LYMPHOCYTES; ACTIVATED PROTEIN-KINASE; MAJOR DEPRESSION AB Neuropsychiatric disorders have long been linked to both immune system activation and alterations in serotonin (5-HT) signaling. In the CNS, the contributions of 5-HT modulate a broad range of targets, most notably, hypothalamic, limbic and cortical circuits linked to the control of mood and mood disorders. In the periphery, many are aware of the production and actions of 5-HT in the gut but are unaware that the molecule and its receptors are also present in the immune system where evidence suggests they contribute to the both innate and adaptive responses. In addition, there is clear evidence that the immune system communicates to the brain via both humoral and neuronal mechanisms, and that CNS 5-HT neurons are a direct or indirect target for these actions. Following a brief primer on the immune system, we describe our current understanding of the synthesis, release, and actions of 5-HT in modulating immune function, including the expression of 5-HT biosynthetic enzymes, receptors, and transporters that are typically studied with respect to the roles in the CNS. We then orient our presentation to recent findings that pro-inflammatory cytokines can modulate CNS 5-HT signaling, leading to a conceptualization that among the many roles of 5-HT in the body is an integrated physiological and behavioral response to inflammatory events and pathogens. From this perspective, altered 5-HT/immune conversations are likely to contribute to risk for neurobehavioral disorders historically linked to compromised 5-HT function or ameliorated by 5-HT targeted medications, including depression and anxiety disorders, obsessive-compulsive disorder (OCD), and autism. Our review raises the question as to whether genetic variation impacting 5-HT signaling genes may contribute to maladaptive behavior as much through perturbed immune system modulation as through altered brain mechanisms. Conversely, targeting the immune system for therapeutic development may provide an important opportunity to treat mental illness. 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Neurosci. PD JAN PY 2013 VL 4 IS 1 BP 48 EP 63 DI 10.1021/cn300186b PG 16 WC Biochemistry & Molecular Biology; Chemistry, Medicinal; Neurosciences SC Biochemistry & Molecular Biology; Pharmacology & Pharmacy; Neurosciences & Neurology GA 075XN UT WOS:000313920600011 PM 23336044 ER PT J AU Coolidge, FL Marle, PD Rhoades, CS Monaghan, P Segal, DL AF Coolidge, Frederick L. Marle, Peter D. Rhoades, Camille S. Monaghan, Patricia Segal, Daniel L. TI Psychometric Properties of a New Measure to Assess Autism Spectrum Disorder in DSM-5 SO AMERICAN JOURNAL OF ORTHOPSYCHIATRY LA English DT Article DE children; autism; autism spectrum disorder; high-functioning autism; pervasive developmental disorder; Asperger's disorder; schizoid personality disorder; attention deficit hyperactivity disorder ID DEFICIT HYPERACTIVITY DISORDER; EXECUTIVE FUNCTION DEFICITS; PERSONALITY-DISORDERS; CHILDREN; HERITABILITY; SAMPLE AB This article presents preliminary psychometric properties of a new 45-item scale, the Coolidge Autistic Symptoms Survey (CASS), designed to differentiate between children within the autism spectrum (including Asperger's Disorder) and purportedly normal children, in anticipation of DSM-5 changes, in which a single diagnostic category is proposed: autism spectrum disorder. The final sample (N = 72) consisted of 19 children diagnosed with Asperger's Disorder, 19 children who were considered loners by their parents (without an autism diagnosis), and 34 purportedly normal children. The CASS and the 200-item, DSM-IV-TR aligned, Coolidge Personality and Neuropsychological Inventory were completed by a parent. The CASS had excellent internal scale reliability (a= .97) and testretest (r = .91) reliability. ANOVA revealed the CASS was able to discriminate significantly among the 3 groups of children. Further research with the CASS appears warranted. C1 [Coolidge, Frederick L.] Univ Colorado, Dept Psychol, Colorado Springs, CO 80918 USA. [Monaghan, Patricia] Nova SE Univ, Ft Lauderdale, FL 33314 USA. RP Coolidge, FL (reprint author), Univ Colorado, Dept Psychol, 1420 Austin Bluffs Pkwy, Colorado Springs, CO 80918 USA. EM fcoolidg@uccs.edu CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT American Psychiatric Association, 2011, DSM 5 DEV Coolidge F. 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PD JAN PY 2013 VL 83 IS 1 BP 126 EP 130 DI 10.1111/ajop.12012 PG 5 WC Psychiatry; Social Work SC Psychiatry; Social Work GA 074MC UT WOS:000313815600014 PM 23330630 ER PT J AU Tanabe, T Kashiwagi, M Shimakawa, S Fukui, M Kadobayashi, K Azumakawa, K Tamai, H Wakamiya, E AF Tanabe, Takuya Kashiwagi, Mitsuru Shimakawa, Shuichi Fukui, Miho Kadobayashi, Kazuko Azumakawa, Kohji Tamai, Hiroshi Wakamiya, Eiji TI Behavioral assessment of Japanese children with epilepsy using SDQ (strengths and difficulties questionnaire) SO BRAIN & DEVELOPMENT LA English DT Article DE SDQ (strengths and difficulties questionnaire); Epilepsy; Behavior; Psychiatric comorbidity; AD/HD (attention-deficit/hyperactivity disorder); QOL (quality of life) ID DEFICIT HYPERACTIVITY DISORDER; QUALITY-OF-LIFE; AUTISM SPECTRUM DISORDERS; MENTAL-HEALTH PROBLEMS; PEDIATRIC EPILEPSY; POPULATION SURVEY; ADOLESCENTS; SEIZURES; SCHOOL; ADHD AB The aim of this study was to elucidate the availability of the strengths and difficulties questionnaire (SDQ) as a screening tool for identifying behavioral problems in Japanese children with epilepsy. Methods: Eighty-three 4-16 year-old epileptic patients, followed at Tanabe-Kadobayashi Children's Clinic, were studied. Children with severe mental or physical disability were excluded. The Japanese version of the SDQ was used, and scores were compared to the Japanese standard. Results: 'Hyperactivity' was the SDQ category with the most striking differences from normal: a significant numbers of children had scores above the clinically normal range and only a small proportion were within the normal range (p < 0.0001). The rates of epilepsy patients with scores above normal range were also significantly higher for 'peer problems' and 'conduct problems' (p < 0.0001 and p < 0.01). The rates of epilepsy patients with scores within the normal range was significantly lower for 'emotional symptoms' than in normal controls (p < 0.001). On the other hand, the 'pro-social behavior' score did not differ significantly from the Japanese standard. As for clinical factors, patients with symptomatic localization-related epilepsy and focal electroencephalographic abnormalities had significantly higher scores for some SDQ items. Age at epilepsy onset correlated negatively with scores for 'total difficulties' and 'hyperactivity', suggesting early onset to be a risk factor for poor SDQ scores. Conclusions: These findings confirm that higher rates of psychiatric comorbidity in Japanese children with epilepsy may be diagnosed using SDQ in Japanese children with epilepsy. These problems should be addressed in the early phase of epilepsy management in order to preserve health-related quality of life for affected patients. (C) 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. C1 [Kashiwagi, Mitsuru] Hirakata City Hosp, Dept Pediat, Hirakata, Osaka, Japan. [Shimakawa, Shuichi; Fukui, Miho; Tamai, Hiroshi] Osaka Med Coll, Dept Pediat, Osaka, Japan. 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PD JAN PY 2013 VL 35 IS 1 BP 81 EP 86 DI 10.1016/j.braindev.2012.03.008 PG 6 WC Clinical Neurology SC Neurosciences & Neurology GA 079WP UT WOS:000314203200014 PM 22494963 ER PT J AU Seneff, S Lauritzen, A Davidson, RM Lentz-Marino, L AF Seneff, Stephanie Lauritzen, Ann Davidson, Robert M. Lentz-Marino, Laurie TI Is Encephalopathy a Mechanism to Renew Sulfate in Autism? SO ENTROPY LA English DT Review DE encephalitis; autism; nitric oxide; cholesterol sulfate; ammonia; aluminum; mercury; lead; glyphosate; seizures; taurine ID BLOOD-BRAIN-BARRIER; NITRIC-OXIDE SYNTHASE; LONG-TERM POTENTIATION; ALUMINUM VACCINE ADJUVANTS; NMDA-RECEPTOR ENCEPHALITIS; RAT HIPPOCAMPAL-NEURONS; AMMONIA-LYASE ACTIVITY; LEMLI-OPITZ-SYNDROME; LATE-ONSET AUTISM; SPECTRUM DISORDERS AB This paper makes two claims: (1) autism can be characterized as a chronic low-grade encephalopathy, associated with excess exposure to nitric oxide, ammonia and glutamate in the central nervous system, which leads to hippocampal pathologies and resulting cognitive impairment, and (2), encephalitis is provoked by a systemic deficiency in sulfate, but associated seizures and fever support sulfate restoration. We argue that impaired synthesis of cholesterol sulfate in the skin and red blood cells, catalyzed by sunlight and nitric oxide synthase enzymes, creates a state of colloidal instability in the blood manifested as a low zeta potential and increased interfacial stress. Encephalitis, while life-threatening, can result in partial renewal of sulfate supply, promoting neuronal survival. Research is cited showing how taurine may not only help protect neurons from hypochlorite exposure, but also provide a source for sulfate renewal. Several environmental factors can synergistically promote the encephalopathy of autism, including the herbicide, glyphosate, aluminum, mercury, lead, nutritional deficiencies in thiamine and zinc, and yeast overgrowth due to excess dietary sugar. Given these facts, dietary and lifestyle changes, including increased sulfur ingestion, organic whole foods, increased sun exposure, and avoidance of toxins such as aluminum, mercury, and lead, may help to alleviate symptoms or, in some instances, to prevent autism altogether. C1 [Seneff, Stephanie] MIT, Comp Sci & Artificial Intelligence Lab, Cambridge, MA 02139 USA. [Davidson, Robert M.] PhyNet Inc, Internal Med Grp Practice, Longview, TX 75604 USA. [Lentz-Marino, Laurie] Mt Holyoke Coll, Biochem Lab, S Hadley, MA 01075 USA. RP Seneff, S (reprint author), MIT, Comp Sci & Artificial Intelligence Lab, 77 Massachusetts Ave, Cambridge, MA 02139 USA. EM Seneff@csail.mit.edu; crzdcmst@sbcglobal.net; patrons99@yahoo.com; pcallist@yahoo.com FU Quanta Computers, Taipei, Taiwan, under the auspices of the Qmulus Project FX This work was funded in part by Quanta Computers, Taipei, Taiwan, under the auspices of the Qmulus Project. We would like to thank Anthony Samsel for alerting us to a role for glyphosate in disruption of gut bacteria. We are indebted to two anonymous reviewers whose thoughtful comments led to a much-improved version of the paper. 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Mathews, Lauren Mehta, Smita Hill, Margaret Munoz, Ashley Bishop, Rachel Moloney, Molly TI Personal FM systems for children with autism spectrum disorders (ASD) and/or attention-deficit hyperactivity disorder (ADHD): An initial investigation SO JOURNAL OF COMMUNICATION DISORDERS LA English DT Article DE Speech recognition; FM system; Autism; Attention-deficit hyperactivity disorder; Listening behavior ID SPEECH-RECOGNITION PERFORMANCE; NOISE; CLASSROOMS; HEARING; ADULTS AB The goal of this initial investigation was to examine the potential benefit of a frequency modulation (FM) system for 11 Children diagnosed with autism spectrum disorders (ASD), attention-deficit hyperactivity disorder (ADHD), or both disorders through measures of speech recognition performance in noise, observed classroom behavior, and teacher-rated educational risk and listening behaviors. Use of the FM system resulted in significant average improvements in speech recognition in noise for the children with ASD and ADHD as well as large effect sizes. When compared to typically functioning peers, children with ASD and ADHD had significantly poorer average speech recognition performance in noise without the FM system but comparable average performance when the FM system was used. Similarly, classroom observations yielded a significant increase in on-task behaviors and large effect sizes when the FM system was in use during two separate trial periods. Although teacher ratings on questionnaires showed no significant improvement in the average level of educational risk of participants, they did indicate significant improvement in average listening behaviors during two trial periods with the FM system. Given the significantly better speech recognition in noise, increased on-task behaviors, and improved teacher ratings of listening behaviors with the FM system, these devices may be a viable option for children who have ASD and ADHD in the classroom. However, an individual evaluation including audiological testing and a functional evaluation in the child's primary learning environment will be necessary to determine the benefit of an FM system for a particular student. Learning Outcomes: 1. The reader will be able to describe the potential benefit of FM systems for children with ASD and/or ADHD. 2. The reader will be able to identify on-task versus off-task listening behaviors in children with ASD and/or ADHD. 3. The reader will be able to explain the components of a successful pre-fit education program that may be necessary prior to fitting an FM system in children with ASD. (c) 2012 Elsevier Inc. All rights reserved. C1 [Schafer, Erin C.; Mathews, Lauren; Hill, Margaret; Munoz, Ashley; Bishop, Rachel; Moloney, Molly] Univ N Texas, Dept Speech & Hearing Sci, Denton, TX 76203 USA. [Mehta, Smita] Univ N Texas, Dept Educ Psychol, Denton, TX 76203 USA. RP Schafer, EC (reprint author), Univ N Texas, Dept Speech & Hearing Sci, 1155 Union Circle 305010, Denton, TX 76203 USA. EM Erin.Schafer@unt.edu FU Phoank AG in Switzerland FX Funding for a research assistant and supplies for this study was graciously provided through a grant from Phoank AG in Switzerland. Subjects in this study were not paid for their participation; FM system equipment was loaned to the examiners for the study by Phonak AG. Appreciation is also expressed to Katherine Algier for her editing of this manuscript. CR Alcantara J. 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Shinnar, Shlomo TI Treatment Outcomes of West Syndrome in Infants With Down Syndrome SO PEDIATRIC NEUROLOGY LA English DT Article ID TUBEROUS SCLEROSIS COMPLEX; AUTISM SPECTRUM DISORDERS; SPASMS; CHILDREN AB West syndrome constitutes the most frequent of all seizure types in infants with Down syndrome. We retrospectively reviewed records of 12 infants with Down syndrome and West syndrome, accounting for 5% of 239 infants with West syndrome from a comprehensive epilepsy database during a 17-year period. All demonstrated classic hypsarrhythmia on video electroencephalograms. One had clinically responded to clonazepam, and one was not treated because the parents refused any treatment. Seven of 10 infants demonstrated a complete response to high-dose natural adrenocorticotrophic hormone. Four (57%) of these seven infants relapsed. Relapses occurred as long as 2 years after cessation of the initial presentation of infantile spasms. At most recent follow-up (median age, 5 years), 8/12 (67%) were seizure-free, and seven were off any medications. Two of three nonresponders manifested intractable epilepsy and profound mental retardation. Developmentally, 6/8 who could be assessed met criteria for autistic spectrum disorder. Close follow-up is necessary even after successful initial treatment, because relapses are frequent and can occur as long as 2 years later. (C) 2013 Elsevier Inc. All rights reserved. C1 [Sanmaneechai, Oranee; Sogawa, Yoshimi; Silver, Wendy; Ballaban-Gil, Karen; Moshe, Solomon L.; Shinnar, Shlomo] Albert Einstein Coll Med, Saul R Korey Dept Neurol, Bronx, NY 10467 USA. [Sanmaneechai, Oranee; Sogawa, Yoshimi; Silver, Wendy; Ballaban-Gil, Karen; Moshe, Solomon L.; Shinnar, Shlomo] Montefiore Med Ctr, Bronx, NY 10467 USA. [Sogawa, Yoshimi; Silver, Wendy; Ballaban-Gil, Karen; Moshe, Solomon L.; Shinnar, Shlomo] Albert Einstein Coll Med, Dept Pediat, Bronx, NY 10467 USA. [Sogawa, Yoshimi; Ballaban-Gil, Karen; Moshe, Solomon L.; Shinnar, Shlomo] Albert Einstein Coll Med, Montefiore Einstein Epilepsy Management Ctr, Bronx, NY 10467 USA. [Moshe, Solomon L.] Albert Einstein Coll Med, Lab Dev Epilepsy, Bronx, NY 10467 USA. [Moshe, Solomon L.] Albert Einstein Coll Med, Dominick P Purpura Dept Neurosci, Bronx, NY 10467 USA. [Moshe, Solomon L.; Shinnar, Shlomo] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10467 USA. RP Sanmaneechai, O (reprint author), Univ Iowa Hosp & Clin, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USA. EM oranee141@gmail.com CR Bolton PF, 2002, BRAIN, V125, P1247, DOI 10.1093/brain/awf124 DiGuiseppi C, 2010, J DEV BEHAV PEDIATR, V31, P181, DOI 10.1097/DBP.0b013e3181d5aa6d DYKENS EM, 1994, AM J MENT RETARD, V98, P580 Eisermann MM, 2003, EPILEPSY RES, V55, P21, DOI 10.1016/S0920-1211(30)00088-3 Goh S, 2005, NEUROLOGY, V65, P235, DOI 10.1212/01.wnl.0000168908.78118.99 Goldberg-Stern H, 2001, BRAIN DEV-JPN, V23, P375, DOI 10.1016/S0387-7604(01)00239-X Kivity S, 2004, EPILEPSIA, V45, P255, DOI 10.1111/j.0013-9580.2004.30503.x LOMBROSO CT, 1983, EPILEPSIA, V24, P135, DOI 10.1111/j.1528-1157.1983.tb04874.x Nabbout R, 2001, EPILEPSIA, V42, P1580, DOI 10.1046/j.1528-1157.2001.13501.x Osborne JP, 2010, EPILEPSIA, V51, P2168, DOI 10.1111/j.1528-1167.2010.02695.x POLLACK MA, 1978, ANN NEUROL, V3, P406, DOI 10.1002/ana.410030508 PUESCHEL SM, 1991, ARCH NEUROL-CHICAGO, V48, P318 Romano C, 1990, Am J Med Genet Suppl, V7, P298 Silva ML, 1996, EPILEPSIA, V37, P977, DOI 10.1111/j.1528-1157.1996.tb00535.x STAFSTROM CE, 1994, DEV MED CHILD NEUROL, V36, P576 TATSUNO M, 1984, BRAIN DEV-JPN, V6, P37 Yanagaki S, 1999, BRAIN DEV-JPN, V21, P461, DOI 10.1016/S0387-7604(99)00053-4 NR 17 TC 2 Z9 2 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0887-8994 J9 PEDIATR NEUROL JI Pediatr. Neurol. PD JAN PY 2013 VL 48 IS 1 BP 42 EP 47 DI 10.1016/j.pediatrneurol.2012.09.006 PG 6 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA 079VC UT WOS:000314199300008 PM 23290019 ER PT J AU Kose, S Bora, E Erermis, S Ozbaran, B Bildik, T Aydin, C AF Kose, Sezen Bora, Emre Erermis, Serpil Ozbaran, Burcu Bildik, Tezan Aydin, Cahide TI Broader autistic phenotype in parents of children with autism: Autism Spectrum Quotient-Turkish version SO PSYCHIATRY AND CLINICAL NEUROSCIENCES LA English DT Article DE autism; Autism Spectrum Quotient; broader autism phenotype ID PERVASIVE DEVELOPMENTAL DISORDERS; FUNCTIONING AUTISM; BEHAVIOR-CHECKLIST; FAMILY-HISTORY; AQ; INDIVIDUALS; PERSONALITY; POPULATION; VALIDITY; TRAITS AB Aims The Autism Spectrum Quotient (AQ) is a self-assessment screening instrument for measuring the degree to which an individual of normal intelligence shows autistic traits. Genetic factors could be responsible for the relatives of individuals with autism exhibiting higher than normal rates of autism-related impairments, referred to as the broader autism phenotype (BAP). The aim of this study was to test whether there is a difference between the parents of autistic and those of typically developing children (TDC) on AQ scores in a Turkish sample. Method The AQ total and subscale scores of the 100 parents (47 fathers, 53 mothers) of children with autistic disorder (AD) were compared with the 100 parents (48 fathers, 52 mothers) of TDC. Results The parents of AD children scored significantly higher than the TDC parents on total AQ score, and two of five subscale scores; social skills, and communication. The other three subscales (attention to detail, attention switching, imagination) did not differentiate groups. There was no significant difference between mothers and fathers on any AQ scores, neither in the AD nor TDC group. The group X gender interaction was not significant on the total or the five subscale scores of AQ. Conclusion Social skill and communication subscales differentiate AD parents more successfully, and are more sensitive, as reported in other studies. The present findings confirm that social skill and communication impairments in parents of children with autism spectrum disorders are indicators of BAP. C1 [Kose, Sezen; Erermis, Serpil; Ozbaran, Burcu; Bildik, Tezan; Aydin, Cahide] Ege Univ, Sch Med, Child & Adolescent Psychiat Dept, Izmir, Turkey. [Bora, Emre] Univ Melbourne, Dept Psychiat, Melbourne Neuropsychiat Ctr, Melbourne, Vic, Australia. RP Kose, S (reprint author), Ege Univ, Tip Fak, Cocuk & Ergen Psikiyatrisi Anabilim Dali, TR-35040 Bornova, Turkey. EM sezengokcen@hotmail.com RI bora, emre/D-4123-2009 CR Achenbach T. 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Neurosci. PD JAN PY 2013 VL 67 IS 1 BP 20 EP 27 DI 10.1111/pcn.12005 PG 8 WC Clinical Neurology; Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA 074QY UT WOS:000313829200004 PM 23331285 ER PT J AU Fingerhut, PE AF Fingerhut, Patricia E. TI Life Participation for Parents: A Tool for Family-Centered Occupational Therapy SO AMERICAN JOURNAL OF OCCUPATIONAL THERAPY LA English DT Article ID CONTEMPORARY PRACTICE; HOLISTIC APPROACH; YOUNG-CHILDREN; CEREBRAL-PALSY; ADAPTATION; MOTHERS; AUTISM; DISABILITY; IMPACT AB OBJECTIVE. This study describes the continued development of the Life Participation for Parents (LPP), a measurement tool to facilitate family-centered pediatric practice. METHOD. LPP questionnaires were completed by 162 parents of children with special needs receiving intervention at 15 pediatric private practice clinics. Results were analyzed to establish instrument reliability and validity. RESULTS. Good internal consistency (alpha = .90) and test-retest reliability (r = .89) were established. Construct validity was examined through assessment of internal structure and comparison of the instrument to related variables. A principal component S analysis resulted in a two-factor model accounting for 43.81% of the variance. As hypothesized, the LPP correlated only moderately with the Parenting Stress Index Short Form (r = .54). The variables of child's diagnoses, age; and time in therapy did not predict parental responses. CONCLUSION. The LPP is a reliable and valid instrument for measuring satisfaction with parental participation in life occupations. Fingerhut, P. E. (2013). Life Participation for Parents: A tool for family-centered occupational therapy. American Journal of Occupational Therapy, 67, 37-44. http://dx.doi.org/10.5014/ajot.2013.005082 C1 Univ Texas Med Branch, Dept Occupat Therapy, Sch Hlth Profess, Galveston, TX 77555 USA. RP Fingerhut, PE (reprint author), Univ Texas Med Branch, Dept Occupat Therapy, Sch Hlth Profess, 301 Univ Blvd, Galveston, TX 77555 USA. EM pefinger@utmb.edu CR Abidin RR, 1995, PARENTING STRESS IND American Occupational Therapy Association, 2008, AM J OCCUPATIONAL TH, V62, P625, DOI [10.5014/ajot.62.6.625, DOI 10.5014/AJOT.62.6.625] Brown T, 2010, HONG KONG J OCCUP TH, V20, P30 Butcher PR, 2008, CHILD CARE HLTH DEV, V34, P530, DOI 10.1111/j.1365-2214.2008.00842.x CADMAN D, 1991, PEDIATRICS, V87, P884 CROWE TK, 1993, DEV MED CHILD NEUROL, V35, P621 Field A., 2009, DISCOVERING STAT USI Fingerhut P. 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J. Occup. Ther. PD JAN-FEB PY 2013 VL 67 IS 1 BP 37 EP 44 DI 10.5014/ajot.2013.005082 PG 8 WC Rehabilitation SC Rehabilitation GA 073UO UT WOS:000313768800005 PM 23245781 ER PT J AU Ben Thabet, J Sallemi, R Hasiri, I Zouari, L Kamoun, F Zouari, N Triki, C Maalej, M AF Ben Thabet, J. Sallemi, R. Hasiri, I. Zouari, L. Kamoun, F. Zouari, N. Triki, C. Maalej, M. TI Psycho-emotional impact of a child's disability on parents SO ARCHIVES DE PEDIATRIE LA French DT Article ID PSYCHOLOGICAL DISTRESS; GENDER-DIFFERENCES; MOTHERS; FAMILIES; FATHERS; STRESS; POPULATION; ADAPTATION; DEPRESSION; AUTISM AB Care for a child with a disability is a stressful experience for parents. It triggers a range of emotions and feelings that require a set of behaviors and attitudes to manage daily life. To face this situation, parents use coping strategies. The purpose of this study was to assess the psychological reactions (depression and anxiety) of parents and the impact of a child's disability on their quality of life (QOL), and to determine their coping strategies. A survey of 50 parents of handicapped children, treated in the neurology department at the Sfax Teaching Hospital in Tunisia, was conducted in September 2010. The Beck Depression Inventory (BDI), the State Trait Anxiety Inventory (STAI), the SF-36, and the Brief COPE were used to assess, respectively, depression, anxiety, QOL, and coping strategies in parents. Among the group of parents studied, the anxiety and depression rates were, respectively, 68% and 52%. Depression was more frequent among mothers and was correlated with low educational and socioeconomic levels. Anxiety was found in 70.7% of mothers and 55.6% of fathers with no significant correlation. There was a correlation between anxiety and increased family burden related to the presence of a similar case in the family. The range of coping strategies used includes religion (16%), active coping (16%), planning (16%), acceptance (20%), focus and venting of feelings (10%), and seeking emotional social support (10%). Parents used emotion-focused coping in 68% of cases and problem-centered coping in 32% of cases. The coping strategy choice was significantly correlated with gender. Mothers preferentially used emotion-focused coping. Depressed or anxious parents more frequently used emotion-focused strategies. Religious faith was correlated with a strategy centered on religious coping. The length of follow-up (more than 2 years) was correlated with a strategy focused on acceptance. Emotion-focused coping was also correlated with low levels of education and socioeconomic status We found correlations between depression and different types of emotion-focused coping such as emotional support. Impaired QOL was higher among mothers (58.5% versus 33.3%). It was correlated with depression, anxiety, and the use of emotional coping. Also, it was correlated with low educational and socioeconomic levels and increased family burden related to the presence of a similar case in the family. The size most commonly impaired in mothers was limited due to mental health (56.9% versus 44.4% for fathers). Social functioning (D6) was significantly correlated with the presence of a mental disability, the functional dependence of the child, and increased family burden related to the presence of a similar case in the family. Impaired QOL was found in 66.8% of parents dissatisfied with the explanations given by the medical team. More problem-focused coping was found in parents satisfied with the information given by the medical team compared to those inadequately informed (42.1% veksus 25.8%). The presence of a disabled child causes profound changes in the family. The impact of anxiety and depression on parents and on their QOL are considerable. This is a situation that involves an adaptation process. At first, parents may be tempted to use coping strategies focused on religion, a choice related to Arab-Muslim fatalism. Parents should be encouraged to use active coping strategies to support their disabled child better. In addition, adequate information given by the healthcare staff would help them to deal with the child's handicap and would contribute to improving their QOL. (C) 2012 Elsevier Masson SAS. All rights reserved. C1 [Ben Thabet, J.; Sallemi, R.; Zouari, L.; Zouari, N.; Maalej, M.] Univ Sfax, CHU Hedi Chaker, Serv Psychiat C, Fac Med Sfax, Sfax 3029, Tunisia. [Hasiri, I.; Kamoun, F.; Triki, C.] Univ Sfax, CHU Hedi Chaker, Serv Neuropediat, Fac Med Sfax, Sfax 3029, Tunisia. RP Ben Thabet, J (reprint author), Univ Sfax, CHU Hedi Chaker, Serv Psychiat C, Fac Med Sfax, 7 Route El Ain Km, Sfax 3029, Tunisia. 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Salle-Collemiche, X. Da Fonseca, D. TI Prospective assessment of children with pervasive developmental disorder after 2 years of day-hospital treatment SO ARCHIVES DE PEDIATRIE LA French DT Article ID BEHAVIORAL TREATMENT; AUTISM AB The treatment of children with pervasive developmental disorders (PDD) has not been systematically assessed in French day-care units. In this prospective study, 11 children with a diagnosis of PDD were followed up for 2 years in a day-care unit in the Marseille university hospital. The treatment they received is based on an initial assessment by the "Centre Ressources Autisme" (CRA PACA) and further included a continued observation of the child and an assessment of the child's abilities and needs. This treatment used various therapeutic approaches 10 h weekly and also included parental counseling and coordinated work with schools. Treatment in our day-care unit can be categorized as eclectic, non-intensive therapy. It is based on methods such as TEACCH (Treatment and Education of Autistic and related Communication handicapped Children), Floor Time Play, speech and language therapy, developmental therapy, and psychotherapy. International studies on intensive behavioral therapies suggest that this treatment is superior to non-behavioral and/or non-intensive treatment. They suggest its efficiency is due both to the nature of the treatment (behavioral) and to its intensity (more than 25 h a week). In this study, the CRA diagnosed children using the ADI and ADOS. The 11 children (mean age, 3 years 5 months) were tested twice, with the Vineland and CARS scales. The first assessment was on admission to the day hospital and the second was 2 years later. The results showed developmental progress with a mean increase of 13.5 months at the Vineland Scale, and a decrease of the autism severity score on the CARS. The treatment presented here proves to be efficient; if compared to similar results in international studies, we obtained better results than their eclectic intensive or non-intensive treatment comparison group. (C) 2012 Elsevier Masson SAS. All rights reserved. C1 [Poinso, F.; Dubois, B.; Sokolowsky, M.; Salle-Collemiche, X.] CHU Marseille, Hop St Marguerite, Serv Pedopsychiat, F-13274 Marseille 09, France. [Chatel, C.; Viellard, M.; Bastard-Rosset, D.; Girardot, A. -M.; Grandgeorge, P.; De Martino, S.; Da Fonseca, D.] CHU Marseille, Hop St Marguerite, Ctr Ressource Autisme PACA, Serv Pedopsychiat, F-13274 Marseille 09, France. RP Poinso, F (reprint author), CHU Marseille, Hop St Marguerite, Serv Pedopsychiat, F-13274 Marseille 09, France. 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Health Care PD JAN PY 2013 VL 43 IS 1 BP 1 EP 1 PG 1 WC Pediatrics SC Pediatrics GA 078ZV UT WOS:000314140600001 PM 23332396 ER PT J AU Manning-Courtney, P Murray, D Currans, K Johnson, H Bing, N Kroeger-Geoppinger, K Sorensen, R Bass, J Reinhold, J Johnson, A Messerschmidt, T AF Manning-Courtney, Patricia Murray, Donna Currans, Kristn Johnson, Heather Bing, Nicole Kroeger-Geoppinger, Kim Sorensen, Rena Bass, Jennifer Reinhold, Judy Johnson, Amy Messerschmidt, Teri TI Autism Spectrum Disorders SO CURRENT PROBLEMS IN PEDIATRIC AND ADOLESCENT HEALTH CARE LA English DT Article ID ALTERNATIVE MEDICINE TREATMENTS; INTENSIVE BEHAVIORAL TREATMENT; RECURRENCE RISK; CHILDREN; COMPLEMENTARY; HYPERACTIVITY; ADOLESCENTS; PREVALENCE; MANAGEMENT; DIAGNOSIS AB Autism spectrum disorders are being diagnosed with increasing frequency. The likelihood that a primary care provider will see a patient with autism spectrum disorder in their clinic is high. In this article, current diagnostic criteria and expected changes in DSM criteria, as well as prevalence rates and epidemiologic studies are reviewed. Recommendations for screening, including early warning signs, and best practices for diagnosis are discussed. Comprehensive evidence based intervention for ASD as well as the findings of the National Standards Project are reviewed. Medication management is also described, as are the roles of other treating professionals. Curr Probl Pediatr Adolesc Health Care 2013;43:2-11 C1 [Manning-Courtney, Patricia; Murray, Donna; Currans, Kristn; Johnson, Heather; Bing, Nicole; Kroeger-Geoppinger, Kim; Sorensen, Rena; Bass, Jennifer; Reinhold, Judy; Johnson, Amy; Messerschmidt, Teri] Univ Cincinnati, Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45221 USA. RP Manning-Courtney, P (reprint author), Univ Cincinnati, Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45221 USA. 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Interpreting Diverse Developmental Paths: An Introduction to the Special Section SO DEVELOPMENTAL PSYCHOLOGY LA English DT Editorial Material DE diversity; culture; education; autism ID LANGUAGE; AUTISM AB How should differences between "typically developing" children and other populations be interpreted? To what extent should the emphasis be on advocating remediation for children who are on a developmental trajectory that differs from the norm versus embracing different developmental trajectories as equally valid contributions to the diversity of human experience? The 6 target articles and 2 commentaries in this special section offer a diverse set of perspectives on the tensions and responsibilities inherent in interpreting and acting on differences between children of different cultural, ethnic, linguistic, socioeconomic, and neurological backgrounds. C1 [Akhtar, Nameera] Univ Calif Santa Cruz, Dept Psychol, Santa Cruz, CA 95064 USA. [Jaswal, Vikram K.] Univ Virginia, Dept Psychol, Charlottesville, VA 22903 USA. RP Akhtar, N (reprint author), Univ Calif Santa Cruz, Dept Psychol, Santa Cruz, CA 95064 USA. 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Cultural Issues in Understanding Neurodevelopmental Disorders SO DEVELOPMENTAL PSYCHOLOGY LA English DT Article DE autism; culture; treatment; prevalence; specific language impairment ID PERVASIVE DEVELOPMENTAL DISORDERS; CHILDRENS-COMMUNICATION-CHECKLIST; AUTISM SPECTRUM DISORDER; LANGUAGE IMPAIRMENT; SPEAKING CHILDREN; COGNITIVE-STYLE; PREVALENCE; DIAGNOSIS; SPEECH; SLI AB Developmental disorders, such as autism spectrum disorder and specific language impairment, are biologically based disorders that currently rely on behaviorally defined criteria for diagnosis and treatment. Specific behaviors that are included in diagnostic frameworks and the point at which individual differences in behavior constitute abnormality are largely arbitrary decisions. Such decisions are therefore likely to be strongly influenced by cultural values and expectations. This is evident in the dramatically different prevalence rates of autism spectrum disorder across countries and across different ethnic groups within the same country. In this article, we critically evaluate the understanding of developmental disorders from a cultural perspective. We specifically consider the challenges of applying diagnostic methods across cultural contexts, the influence of cultural values and expectations on the identification and treatment of children with suspected disorders, and how cross-cultural studies can help to refine cognitive theories of disorder that have been derived exclusively from Western North American and European investigations. Our review synthesizes clinical, cultural, and theoretical work in this area, highlighting potential universals of disorder and concluding with recommendations for future research and practice. C1 [Norbury, Courtenay Frazier] Univ London, Dept Psychol, Egham TW20 0EX, Surrey, England. 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PD JAN PY 2013 VL 49 IS 1 BP 45 EP 58 DI 10.1037/a0027446 PG 14 WC Psychology, Developmental SC Psychology GA 069YC UT WOS:000313472000005 PM 22390668 ER PT J AU Kapp, SK Gillespie-Lynch, K Sherman, LE Hutman, T AF Kapp, Steven K. Gillespie-Lynch, Kristen Sherman, Lauren E. Hutman, Ted TI Deficit, Difference, or Both? Autism and Neurodiversity SO DEVELOPMENTAL PSYCHOLOGY LA English DT Article DE autism; neurodiversity; parenting; adaptation; identity ID SPECTRUM DISORDER; ASPERGER-SYNDROME; FUNCTIONING AUTISM; DIAGNOSIS; COMMUNITY; ASSOCIATIONS; DISABILITY; CHILDREN; PARENTS; ADULTS AB The neurodiversity movement challenges the medical model's interest in causation and cure, celebrating autism as an inseparable aspect of identity. Using an online survey, we examined the perceived opposition between the medical model and the neurodiversity movement by assessing conceptions of autism and neurodiversity among people with different relations to autism. Participants (N = 657) included autistic people, relatives and friends of autistic people, and people with no specified relation to autism. Self-identification as autistic and neurodiversity awareness were associated with viewing autism as a positive identity that needs no cure, suggesting core differences between the medical model and the neurodiversity movement. Nevertheless, results suggested substantial overlap between these approaches to autism. Recognition of the negative aspects of autism and endorsement of parenting practices that celebrate and ameliorate but do not eliminate autism did not differ based on relation to autism or awareness of neurodiversity. These findings suggest a deficit-as-difference conception of autism wherein neurological conditions may represent equally valid pathways within human diversity. Potential areas of common ground in research and practice regarding autism are discussed. C1 [Kapp, Steven K.] Univ Calif Los Angeles, Grad Sch Educ & Informat Studies, Los Angeles, CA 90095 USA. [Gillespie-Lynch, Kristen; Sherman, Lauren E.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA 90095 USA. [Hutman, Ted] Univ Calif Los Angeles, Dept Psychiat & Biobehav Sci, Los Angeles, CA 90095 USA. RP Kapp, SK (reprint author), Univ Calif Los Angeles, Grad Sch Educ & Informat Studies, 3132 Moore Hall,Box 951521, Los Angeles, CA 90095 USA. EM kapp@ucla.edu; proserpinae@ucla.edu CR American Psychiatric Association, 2000, DIAGN STAT MAN MENT Anckarsater H, 2010, INT J LAW PSYCHIAT, V33, P59, DOI 10.1016/j.ijlp.2009.12.001 Armstrong T., 2010, NEURODIVERSITY DISCO Bagatell N, 2010, ETHOS, V38, P33, DOI 10.1111/j.1548-1352.2009.01080.x Baker D. 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Psychol. PD JAN PY 2013 VL 49 IS 1 BP 59 EP 71 DI 10.1037/a0028353 PG 13 WC Psychology, Developmental SC Psychology GA 069YC UT WOS:000313472000006 PM 22545843 ER PT J AU Rosenthal, M Wallace, GL Lawson, R Wills, MC Dixon, E Yerys, BE Kenworthy, L AF Rosenthal, Michael Wallace, Gregory L. Lawson, Rachel Wills, Meagan C. Dixon, Eunice Yerys, Benjamin E. Kenworthy, Lauren TI Impairments in Real-World Executive Function Increase From Childhood to Adolescence in Autism Spectrum Disorders SO NEUROPSYCHOLOGY LA English DT Article DE autism; executive function; BRIEF; development; age-related ID DIAGNOSTIC INTERVIEW; CHILDREN; DEFICITS; PERFORMANCE; SYMPTOMS; VERSION; SKILLS AB Objective: Although several studies have investigated developmental trajectories of executive functioning (EF) in individuals with autism spectrum disorders (ASD) using lab-based tasks, no study to date has directly measured how EF skills in everyday settings vary at different ages. The current study seeks to extend prior work by evaluating age-related differences in parent-reported EF problems during childhood and adolescence in a large cross-sectional cohort of children with ASD. Method: Children (N = 185) with an ASD without intellectual disability participated in the study. Participants were divided into four groups based on age (5-7, 8-10, 11-13, and 14-18-year-olds). The four age groups did not differ in IQ, sex ratio, or autism symptoms. Results: There were significant age effects (i.e., worsening scores with increasing age) in three of G. A. Gioia, P. K. Isquith, S. Guy, and L. Kenworthy's (2000) BRIEF: Behavior Rating Inventory of Executive Function, Odessa, FL, Psychological Assessment Resources scale scores: Initiate (p = .007), working memory (p = .003), and organization of materials (p = .023). In addition, analysis of the BRIEF scale profile revealed that, although multiple scales were elevated, the shift scale showed the greatest problems in both the youngest and oldest age cohorts. Conclusions: Older children with ASD show greater EF problems compared with the normative sample than younger children with ASD. Specifically, there is a widening divergence from the normative sample in metacognitive executive abilities in children with ASD as they age. This, in combination with significant, albeit more stable, impairments in flexibility, has implications for the challenges faced by high-functioning individuals with ASD as they attempt to enter mainstream work and social environments. C1 [Rosenthal, Michael; Wills, Meagan C.; Yerys, Benjamin E.; Kenworthy, Lauren] Childrens Natl Med Ctr, Ctr Autism Spectrum Disorders, Rockville, MD 20850 USA. [Wallace, Gregory L.; Dixon, Eunice] NIMH, Lab Brain & Cognit, US Dept HHS, NIH, Bethesda, MD USA. 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Moulin, Chris J. A. Souchay, Celine TI Metamemory in Children With Autism: Exploring "Feeling-of-Knowing" in Episodic and Semantic Memory SO NEUROPSYCHOLOGY LA English DT Article DE autism; memory; metamemory; feeling-of-knowing ID MEDIAL TEMPORAL-LOBE; SPECTRUM DISORDER; AUTOBIOGRAPHICAL MEMORY; ASPERGERS-SYNDROME; AUTONOETIC CONSCIOUSNESS; RECOGNITION MEMORY; ALZHEIMERS-DISEASE; OLDER-ADULTS; RECALL; JUDGMENTS AB Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder primarily affecting social function and communication. Recently, there has been an interest in whether people with ASD also show memory deficits. Studies in ASD have revealed subtle impairments on tasks requiring participants to learn new information (episodic memory), but intact performance on general knowledge tasks (semantic memory). The novelty of this study was to explore metamemory (i.e., awareness of memory performance) and to examine whether children with ASD suffer from a generalized metamemory deficit common to all forms of memory, or would only present deficits on episodic metamemory tasks. Method: To assess metamemory functioning we administered 2 feeling-of-knowing (FOK) tasks, 1 for episodic and 1 for semantic materials. In these tasks, participants are asked to predict the likelihood of subsequently recognizing currently unrecalled information. Results: It was found that children with autism made inaccurate FOK predictions, but only for episodic materials. Conclusion: A specific deficit in meta-cognition emerges for only one set of materials. We argue that this deficit can be conceived of as reflecting a deficit in recollection, stemming from an inability to cast the self in the past and retrieve information about the study episode. 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Beck, Sarah R. Mitchell, Ian J. Praamstra, Peter Pall, Hardev S. TI Theory of Mind Deficits in Parkinson's Disease: A Product of Executive Dysfunction? SO NEUROPSYCHOLOGY LA English DT Article DE Parkinson's disease; executive function; theory of mind; working memory; basal ganglia ID HIGH-FUNCTIONING AUTISM; TRAUMATIC BRAIN-INJURY; VERBAL WORKING-MEMORY; INHIBITORY CONTROL; COGNITIVE IMPAIRMENT; STORY COMPREHENSION; LOBE CONTRIBUTIONS; ASPERGER-SYNDROME; RECOGNITION; LANGUAGE AB Objective: Patients with Parkinson's disease (PD) can perform poorly on tasks involving theory of mind (ToM): the ability to reason about mental states. We investigated whether patients' ToM deficits were independent of executive dysfunction. Method: Experiment 1 aimed to establish that ToM deficits were present, and 2 following experiments manipulated the working memory (WM) demands of the ToM task. Results: In Experiment 1, 15 patients with PD performed significantly more poorly than controls on a false belief vignette task but not on a faux pas task. Errors were related to poor verbal fluency. In Experiment 2, 24 patients with PD made fewer errors on shorter false belief vignettes than the original FBT, and errors on the latter were related to WM impairment. In Experiment 3, the FBT was presented as a comic strip visible throughout questioning, reducing WM demands. Patients (n = 24) made memory errors but no false belief errors on the comic strip. They exhibited no verbal fluency or WM impairments, but did exhibit deficits on a black-and-white Stroop task. False belief errors were not correlated with executive performance. Conclusions: PD patients made very few ToM errors that were independent of errors on memory questions, so in this sample, ToM deficits per se appear unlikely. However, patients still made errors on ToM tasks when associated incidental WM demands were considerably reduced, highlighting the need for future investigations of ToM in PD to account for the role of more general cognitive restrictions exhibited by even some medicated, early stage patients. C1 [Eddy, Clare M.] Birmingham & Solihull Mental Hlth NHS Fdn Trust, Natl Ctr Mental Hlth, Dept Neuropsychiat, Birmingham B15 2FG, W Midlands, England. [Eddy, Clare M.; Pall, Hardev S.] Univ Birmingham, Coll Med & Dent Sci, Sch Clin & Expt Med, Birmingham, W Midlands, England. [Beck, Sarah R.; Mitchell, Ian J.] Univ Birmingham, Sch Psychol, Coll Life & Environm Sci, Birmingham B15 2TT, W Midlands, England. [Praamstra, Peter] Radboud Univ Nijmegen, Nijmegen Med Ctr, Dept Neurol, NL-6525 ED Nijmegen, Netherlands. [Pall, Hardev S.] Univ Hosp Birmingham NHS Fdn Trust, Queen Elizabeth Med Ctr, Dept Neurol, Birmingham, W Midlands, England. 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