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28 results on '"Schlitt, Sabine"'

1. Changes in the pattern of suicides and suicide attempt admissions in relation to the COVID-19 pandemic

Author

Reif-Leonhard, Christine, Lemke, Dorothea, Holz, Franziska, Ahrens, Kira F., Fehr, Christoph, Steffens, Markus, Grube, Michael, Freitag, Christine M., Kölzer, Sarah C., Schlitt, Sabine, Gebhardt, Rebekka, Gädeke, Theresa, Schmidt, Helga, Gerlach, Ferdinand M., Wolff, Kira, Stäblein, Michael, Hauschild, Nora, Beig, Inga, Wagner, Louisa, Müller, Juliane, Verhoff, Marcel A., Schlang, Christiane, and Reif, Andreas

Published
2023
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3. Individual common variants exert weak effects on the risk for autism spectrum disorders

Author

Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Andrew, Green, Jonathan, Guter, Stephen J, Heron, Elizabeth A, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P, Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Magalhaes, Tiago R, Mantoulan, Carine, McDougle, Christopher J, Melhem, Nadine M, Merikangas, Alison, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J, Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L, Schlitt, Sabine, Shah, Naisha, Sheffield, Val C, Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P, Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, JAS, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, and Bailey, Anthony J

Subjects
Behavioral and Social Science, Clinical Research, Human Genome, Mental Health, Genetics, Brain Disorders, Pediatric, Intellectual and Developmental Disabilities (IDD), Autism, Prevention, Aetiology, 2.1 Biological and endogenous factors, Alleles, Child, Child Development Disorders, Pervasive, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Language Development, Male, Membrane Proteins, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Risk Factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.

Published
2012

5. Changes in the pattern of suicides and suicide attempt admissions in relation to the COVID-19 pandemic

Author

Reif-Leonhard, Christine, primary, Lemke, Dorothea, additional, Holz, Franziska, additional, Ahrens, Kira F., additional, Fehr, Christoph, additional, Steffens, Markus, additional, Grube, Michael, additional, Freitag, Christine M., additional, Kölzer, Sarah C., additional, Schlitt, Sabine, additional, Gebhardt, Rebekka, additional, Gädeke, Theresa, additional, Schmidt, Helga, additional, Gerlach, Ferdinand M., additional, Wolff, Kira, additional, Stäblein, Michael, additional, Hauschild, Nora, additional, Beig, Inga, additional, Wagner, Louisa, additional, Müller, Juliane, additional, Verhoff, Marcel A., additional, Schlang, Christiane, additional, and Reif, Andreas, additional

Published
2022
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6. Executive and Visuo-Motor Function in Adolescents and Adults with Autism Spectrum Disorder

Author

Sachse, Michael, Schlitt, Sabine, and Hainz, Daniela

Abstract

This study broadly examines executive (EF) and visuo-motor function in 30 adolescent and adult individuals with high-functioning autism spectrum disorder (ASD) in comparison to 28 controls matched for age, gender, and IQ. ASD individuals showed impaired spatial working memory, whereas planning, cognitive flexibility, and inhibition were spared. Pure movement execution during visuo-motor information processing also was intact. In contrast, execution time of reading, naming, and of visuo-motor information processing tasks including a choice component was increased in the ASD group. Results of this study are in line with previous studies reporting only minimal EF difficulties in older individuals with ASD when assessed by computerized tasks. The finding of impaired visuo-motor information processing should be accounted for in further neuropsychological studies in ASD.

Published
2013
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7. A Close Eye on the Eagle-Eyed Visual Acuity Hypothesis of Autism

Author

Bolte, Sven, Schlitt, Sabine, and Gapp, Volker

Abstract

Autism spectrum disorders (ASD) have been associated with sensory hypersensitivity. A recent study reported visual acuity (VA) in ASD in the region reported for birds of prey. The validity of the results was subsequently doubted. This study examined VA in 34 individuals with ASD, 16 with schizophrenia (SCH), and 26 typically developing (TYP). Participants with ASD did not show higher VA than those with SCH and TYP. There were no substantial correlations of VA with clinical severity in ASD or SCH. This study could not confirm the eagle-eyed acuity hypothesis of ASD, or find evidence for a connection of VA and clinical phenotypes. Research needs to further address the origins and circumstances associated with altered sensory or perceptual processing in ASD. (Contains 2 tables and 1 figure.)

Published
2012
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8. Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders

Author

Waltes, Regina, Duketis, Eftichia, Knapp, Michael, Anney, Richard J. L., Huguet, Guillaume, Schlitt, Sabine, Jarczok, Tomasz A., Sachse, Michael, Kämpfer, Laura M., Kleinböck, Tina, Poustka, Fritz, Bölte, Sven, Schmötzer, Gabriele, Voran, Anette, Huy, Ellen, Meyer, Jobst, Bourgeron, Thomas, Klauck, Sabine M., Freitag, Christine M., and Chiocchetti, Andreas G.

Published
2014
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11. Executive and visuo-motor function in adolescents and adults with autism spectrum disorder

Author

Sachse, Michael, Schlitt, Sabine, Hainz, Daniela, Ciaramidaro, Angela, Schirman, Shella, Walter, Henrik, Poustka, Fritz, Bolte, Sven, and Freitag, Christine M.

Subjects
Pervasive developmental disorders -- Development and progression -- Physiological aspects -- Research, Motor neurons -- Physiological aspects -- Research, Health
Abstract

This study broadly examines executive (EF) and visuo-motor function in 30 adolescent and adult individuals with high-functioning autism spectrum disorder (ASD) in comparison to 28 controls matched for age, gender, and IQ. ASD individuals showed impaired spatial working memory, whereas planning, cognitive flexibility, and inhibition were spared. Pure movement execution during visuo-motor information processing also was intact. In contrast, execution time of reading, naming, and of visuo-motor information processing tasks including a choice component was increased in the ASD group. Results of this study are in line with previous studies reporting only minimal EF difficulties in older individuals with ASD when assessed by computerized tasks. The finding of impaired visuo-motor information processing should be accounted for in further neuropsychological studies in ASD. Keywords Autism * Executive functions * Reaction time * Movement time * Information processing * CANTAB, Introduction The term 'executive function' refers to a variety of higher cognitive functions used to accomplish goals in a changing environment (Jurado and Rosselli 2007). It serves as an umbrella [...]

Published
2013
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14. A close eye on the eagle-eyed visual acuity hypothesis of autism

Author

Boite, Sven, Schlitt, Sabine, Gapp, Volker, Hainz, Daniela, Poustka, Sheila Schirman Fritz, Weber, Bernhard, Freitag, Christine, Ciaramidaro, Angela, and Walter, Henrik

Subjects
Visual acuity -- Physiological aspects -- Demographic aspects -- Research, Autism -- Complications and side effects -- Physiological aspects -- Research, Health
Abstract

Autism spectrum disorders (ASD) have been associated with sensory hypersensitivity. A recent study reported visual acuity (VA) in ASD in the region reported for birds of prey. The validity of the results was subsequently doubted. This study examined VA in 34 individuals with ASD, 16 with schizophrenia (SCH), and 26 typically developing (TYP). Participants with ASD did not show higher VA than those with SCH and TYP. There were no substantial correlations of VA with clinical severity in ASD or SCH. This study could not confirm the eagle-eyed acuity hypothesis of ASD, or find evidence for a connection of VA and clinical phenotypes. Research needs to further address the origins and circumstances associated with altered sensory or perceptual processing in ASD. Keywords Autism * Schizophrenia * Vision * Attention * Sensory processing * Bottom-up, Introduction The clinical phenotype of autism spectrum disorders (ASD) is defined by impairments in reciprocal social interaction, mutual communication alongside with inflexible behavior patterns and interests. The cognitive phenotype of [...]

Published
2012
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16. No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder

Author

Curran, Sarah, Bolton, Patrick, Rozsnyai, Kinga, Chiocchetti, Andreas, Klauck, Sabine M., Duketis, Eftichia, Poustka, Fritz, Schlitt, Sabine, Freitag, Christine M., Lee, Irene, Muglia, Pierandrea, Poot, Martin, Staal, Wouter, de Jonge, Maretha V., Ophoff, Roel A., Lewis, Cathryn, Skuse, David, Mandy, Will, Vassos, Evangelos, Fossdal, Ragnheidur, Magnusson, Páll, Hreidarsson, Stefan, Saemundsen, Evald, Stefansson, Hreinn, Stefansson, Kari, and Collier, David

Published
2011
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17. Significance of Beta-Band Oscillations in Autism Spectrum Disorders During Motor Response Inhibition Tasks: A MEG Study

Author

Moliadze, Vera, primary, Brodski-Guerniero, Alla, additional, Schuetz, Magdalena, additional, Siemann, Julia, additional, Lyzhko, Ekaterina, additional, Schlitt, Sabine, additional, Kitzerow, Janina, additional, Langer, Anne, additional, Kaiser, Jochen, additional, Naumer, Marcus J., additional, Wibral, Michael, additional, Chan, Jason, additional, Freitag, Christine M., additional, and Siniatchkin, Michael, additional

Published
2020
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18. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Author

Satterstrom, F. Kyle, primary, Kosmicki, Jack A., additional, Wang, Jiebiao, additional, Breen, Michael S., additional, De Rubeis, Silvia, additional, An, Joon-Yong, additional, Peng, Minshi, additional, Collins, Ryan, additional, Grove, Jakob, additional, Klei, Lambertus, additional, Stevens, Christine, additional, Reichert, Jennifer, additional, Mulhern, Maureen S., additional, Artomov, Mykyta, additional, Gerges, Sherif, additional, Sheppard, Brooke, additional, Xu, Xinyi, additional, Bhaduri, Aparna, additional, Norman, Utku, additional, Brand, Harrison, additional, Schwartz, Grace, additional, Nguyen, Rachel, additional, Guerrero, Elizabeth E., additional, Dias, Caroline, additional, Betancur, Catalina, additional, Cook, Edwin H., additional, Gallagher, Louise, additional, Gill, Michael, additional, Sutcliffe, James S., additional, Thurm, Audrey, additional, Zwick, Michael E., additional, Børglum, Anders D., additional, State, Matthew W., additional, Cicek, A. Ercument, additional, Talkowski, Michael E., additional, Cutler, David J., additional, Devlin, Bernie, additional, Sanders, Stephan J., additional, Roeder, Kathryn, additional, Daly, Mark J., additional, Buxbaum, Joseph D., additional, Aleksic, Branko, additional, Anney, Richard, additional, Barbosa, Mafalda, additional, Bishop, Somer, additional, Brusco, Alfredo, additional, Bybjerg-Grauholm, Jonas, additional, Carracedo, Angel, additional, Chan, Marcus C.Y., additional, Chiocchetti, Andreas G., additional, Chung, Brian H.Y., additional, Coon, Hilary, additional, Cuccaro, Michael L., additional, Curró, Aurora, additional, Dalla Bernardina, Bernardo, additional, Doan, Ryan, additional, Domenici, Enrico, additional, Dong, Shan, additional, Fallerini, Chiara, additional, Fernández-Prieto, Montserrat, additional, Ferrero, Giovanni Battista, additional, Freitag, Christine M., additional, Fromer, Menachem, additional, Gargus, J. Jay, additional, Geschwind, Daniel, additional, Giorgio, Elisa, additional, González-Peñas, Javier, additional, Guter, Stephen, additional, Halpern, Danielle, additional, Hansen-Kiss, Emily, additional, He, Xin, additional, Herman, Gail E., additional, Hertz-Picciotto, Irva, additional, Hougaard, David M., additional, Hultman, Christina M., additional, Ionita-Laza, Iuliana, additional, Jacob, Suma, additional, Jamison, Jesslyn, additional, Jugessur, Astanand, additional, Kaartinen, Miia, additional, Knudsen, Gun Peggy, additional, Kolevzon, Alexander, additional, Kushima, Itaru, additional, Lee, So Lun, additional, Lehtimäki, Terho, additional, Lim, Elaine T., additional, Lintas, Carla, additional, Lipkin, W. Ian, additional, Lopergolo, Diego, additional, Lopes, Fátima, additional, Ludena, Yunin, additional, Maciel, Patricia, additional, Magnus, Per, additional, Mahjani, Behrang, additional, Maltman, Nell, additional, Manoach, Dara S., additional, Meiri, Gal, additional, Menashe, Idan, additional, Miller, Judith, additional, Minshew, Nancy, additional, Montenegro, Eduarda M.S., additional, Moreira, Danielle, additional, Morrow, Eric M., additional, Mors, Ole, additional, Mortensen, Preben Bo, additional, Mosconi, Matthew, additional, Muglia, Pierandrea, additional, Neale, Benjamin M., additional, Nordentoft, Merete, additional, Ozaki, Norio, additional, Palotie, Aarno, additional, Parellada, Mara, additional, Passos-Bueno, Maria Rita, additional, Pericak-Vance, Margaret, additional, Persico, Antonio M., additional, Pessah, Isaac, additional, Puura, Kaija, additional, Reichenberg, Abraham, additional, Renieri, Alessandra, additional, Riberi, Evelise, additional, Robinson, Elise B., additional, Samocha, Kaitlin E., additional, Sandin, Sven, additional, Santangelo, Susan L., additional, Schellenberg, Gerry, additional, Scherer, Stephen W., additional, Schlitt, Sabine, additional, Schmidt, Rebecca, additional, Schmitt, Lauren, additional, Silva, Isabela M.W., additional, Singh, Tarjinder, additional, Siper, Paige M., additional, Smith, Moyra, additional, Soares, Gabriela, additional, Stoltenberg, Camilla, additional, Suren, Pål, additional, Susser, Ezra, additional, Sweeney, John, additional, Szatmari, Peter, additional, Tang, Lara, additional, Tassone, Flora, additional, Teufel, Karoline, additional, Trabetti, Elisabetta, additional, Trelles, Maria del Pilar, additional, Walsh, Christopher A., additional, Weiss, Lauren A., additional, Werge, Thomas, additional, Werling, Donna M., additional, Wigdor, Emilie M., additional, Wilkinson, Emma, additional, Willsey, A. Jeremy, additional, Yu, Timothy W., additional, Yu, Mullin H.C., additional, Yuen, Ryan, additional, Zachi, Elaine, additional, Agerbo, Esben, additional, Als, Thomas Damm, additional, Appadurai, Vivek, additional, Bækvad-Hansen, Marie, additional, Belliveau, Rich, additional, Buil, Alfonso, additional, Carey, Caitlin E., additional, Cerrato, Felecia, additional, Chambert, Kimberly, additional, Churchhouse, Claire, additional, Dalsgaard, Søren, additional, Demontis, Ditte, additional, Dumont, Ashley, additional, Goldstein, Jacqueline, additional, Hansen, Christine S., additional, Hauberg, Mads Engel, additional, Hollegaard, Mads V., additional, Howrigan, Daniel P., additional, Huang, Hailiang, additional, Maller, Julian, additional, Martin, Alicia R., additional, Martin, Joanna, additional, Mattheisen, Manuel, additional, Moran, Jennifer, additional, Pallesen, Jonatan, additional, Palmer, Duncan S., additional, Pedersen, Carsten Bøcker, additional, Pedersen, Marianne Giørtz, additional, Poterba, Timothy, additional, Poulsen, Jesper Buchhave, additional, Ripke, Stephan, additional, Schork, Andrew J., additional, Thompson, Wesley K., additional, Turley, Patrick, additional, and Walters, Raymond K., additional

Published
2020
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19. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Author

Satterstrom, F. Kyle, primary, Kosmicki, Jack A., additional, Wang, Jiebiao, additional, Breen, Michael S, additional, De Rubeis, Silvia, additional, An, Joon-Yong, additional, Peng, Minshi, additional, Collins, Ryan L., additional, Grove, Jakob, additional, Klei, Lambertus, additional, Stevens, Christine, additional, Reichert, Jennifer, additional, Mulhern, Maureen S., additional, Artomov, Mykyta, additional, Gerges, Sherif, additional, Sheppard, Brooke, additional, Xu, Xinyi, additional, Bhaduri, Aparna, additional, Norman, Utku, additional, Brand, Harrison, additional, Schwartz, Grace, additional, Nguyen, Rachel, additional, Guerrero, Elizabeth E., additional, Dias, Caroline, additional, Aleksic, Branko, additional, Barbosa, Mafalda, additional, Bishop, Somer, additional, Brusco, Alfredo, additional, Bybjerg-Grauholm, Jonas, additional, Carracedo, Angel, additional, Chan, Marcus C. Y., additional, Chiocchetti, Andreas G., additional, Chung, Brian H. Y., additional, Coon, Hilary, additional, Cuccaro, Michael L., additional, Currò, Aurora, additional, Bernardina, Bernardo Dalla, additional, Doan, Ryan, additional, Domenici, Enrico, additional, Fallerini, Chiara, additional, Fernández-Prieto, Montserrat, additional, Ferrero, Giovanni Battista, additional, Freitag, Christine M., additional, Fromer, Menachem, additional, Gargus, J. Jay, additional, Giorgio, Elisa, additional, González-Peñas, Javier, additional, Guter, Stephen, additional, Halpern, Danielle, additional, Hansen-Kiss, Emily, additional, He, Xin, additional, Herman, Gail E., additional, Hertz-Picciotto, Irva, additional, Hougaard, David M., additional, Hultman, Christina M., additional, Ionita-Laza, Iuliana, additional, Jacob, Suma, additional, Jamison, Jesslyn, additional, Jugessur, Astanand, additional, Kaartinen, Miia, additional, Knudsen, Gun Peggy, additional, Kolevzon, Alexander, additional, Kushima, Itaru, additional, Lee, So Lun, additional, Lehtimäki, Terho, additional, Lim, Elaine T., additional, Lintas, Carla, additional, Lipkin, W. Ian, additional, Lopergolo, Diego, additional, Lopes, Fátima, additional, Ludena, Yunin, additional, Maciel, Patricia, additional, Magnus, Per, additional, Mahjani, Behrang, additional, Maltman, Nell, additional, Manoach, Dara S., additional, Meiri, Gal, additional, Menashe, Idan, additional, Miller, Judith, additional, Minshew, Nancy, additional, de Souza, Eduarda Montenegro M., additional, Moreira, Danielle, additional, Morrow, Eric M., additional, Mors, Ole, additional, Mortensen, Preben Bo, additional, Mosconi, Matthew, additional, Muglia, Pierandrea, additional, Neale, Benjamin M., additional, Nordentoft, Merete, additional, Ozaki, Norio, additional, Palotie, Aarno, additional, Parellada, Mara, additional, Passos-Bueno, Maria Rita, additional, Pericak-Vance, Margaret, additional, Persico, Antonio, additional, Pessah, Isaac, additional, Puura, Kaija, additional, Reichenberg, Abraham, additional, Renieri, Alessandra, additional, Riber, Evelise, additional, Robinson, Elise B., additional, Samocha, Kaitlin E., additional, Sandin, Sven, additional, Santangelo, Susan L., additional, Schellenberg, Gerry, additional, Scherer, Stephen W., additional, Schlitt, Sabine, additional, Schmidt, Rebecca, additional, Schmitt, Lauren, additional, Silva, Isabela Maya W., additional, Singh, Tarjinder, additional, Siper, Paige M., additional, Smith, Moyra, additional, Soares, Gabriela, additional, Stoltenberg, Camilla, additional, Suren, Pål, additional, Susser, Ezra, additional, Sweeney, John, additional, Szatmari, Peter, additional, Tassone, Flora, additional, Teufel, Karoline, additional, Trabetti, Elisabetta, additional, del Pilar Trelles, Maria, additional, Walsh, Christopher, additional, Tang, Lara, additional, Weiss, Lauren A., additional, Werge, Thomas, additional, Werling, Donna, additional, Wigdor, Emilie M., additional, Wilkinson, Emma, additional, Willsey, A. Jeremy, additional, Yu, Tim, additional, H.C. Yu, Mullin, additional, Yuen, Ryan, additional, Zachi, Elaine, additional, Group, iPSYCH Consortium, additional, Betancur, Catalina, additional, Cook, Edwin H., additional, Gallagher, Louise, additional, Gill, Michael, additional, Sutcliffe, James S., additional, Thurm, Audrey, additional, Zwick, Michael E., additional, Børglum, Anders D., additional, State, Matthew W., additional, Cicek, A. Ercument, additional, Talkowski, Michael E., additional, Cutler, David J., additional, Devlin, Bernie, additional, Sanders, Stephan J., additional, Roeder, Kathryn, additional, Daly, Mark J., additional, and Buxbaum, Joseph, additional

Published
2019
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20. Predictable information in neural signals during resting state is reduced in autism spectrum disorder

Author

Brodski‐Guerniero, Alla, primary, Naumer, Marcus J., additional, Moliadze, Vera, additional, Chan, Jason, additional, Althen, Heike, additional, Ferreira‐Santos, Fernando, additional, Lizier, Joseph T., additional, Schlitt, Sabine, additional, Kitzerow, Janina, additional, Schütz, Magdalena, additional, Langer, Anne, additional, Kaiser, Jochen, additional, Freitag, Christine M., additional, and Wibral, Michael, additional

Published
2018
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21. Individual common variants exert weak effects on the risk for autism spectrum disorderspi

Author

Anney, Richard Klei, Lambertus Pinto, Dalila Almeida, Joana and Bacchelli, Elena Baird, Gillian Bolshakova, Nadia and Boelte, Sven Bolton, Patrick F. Bourgeron, Thomas Brennan, Sean Brian, Jessica Casey, Jillian Conroy, Judith and Correia, Catarina Corsello, Christina Crawford, Emily L. de Jonge, Maretha Delorme, Richard Duketis, Eftichia Duque, Frederico Estes, Annette Farrar, Penny Fernandez, Bridget A. and Folstein, Susan E. Fombonne, Eric Gilbert, John and Gillberg, Christopher Glessner, Joseph T. Green, Andrew and Green, Jonathan Guter, Stephen J. Heron, Elizabeth A. Holt, Richard Howe, Jennifer L. Hughes, Gillian Hus, Vanessa and Igliozzi, Roberta Jacob, Suma Kenny, Graham P. Kim, Cecilia and Kolevzon, Alexander Kustanovich, Vlad Lajonchere, Clara M. and Lamb, Janine A. Law-Smith, Miriam Leboyer, Marion Le Couteur, Ann Leventhal, Bennett L. Liu, Xiao-Qing Lombard, Frances Lord, Catherine Lotspeich, Linda Lund, Sabata C. and Magalhaes, Tiago R. Mantoulan, Carine McDougle, Christopher J. and Melhem, Nadine M. Merikangas, Alison Minshew, Nancy J. and Mirza, Ghazala K. Munson, Jeff Noakes, Carolyn Nygren, Gudrun Papanikolaou, Katerina Pagnamenta, Alistair T. and Parrini, Barbara Paton, Tara Pickles, Andrew Posey, David J. and Poustka, Fritz Ragoussis, Jiannis Regan, Regina Roberts, Wendy Roeder, Kathryn Roge, Bernadette Rutter, Michael L. and Schlitt, Sabine Shah, Naisha Sheffield, Val C. Soorya, Latha Sousa, Ines Stoppioni, Vera Sykes, Nuala Tancredi, Raffaella Thompson, Ann P. Thomson, Susanne Tryfon, Ana and Tsiantis, John Van Engeland, Herman Vincent, John B. and Volkmar, Fred Vorstman, J. A. S. Wallace, Simon Wing, Kirsty and Wittemeyer, Kerstin Wood, Shawn Zurawiecki, Danielle and Zwaigenbaum, Lonnie Bailey, Anthony J. Battaglia, Agatino and Cantor, Rita M. Coon, Hilary Cuccaro, Michael L. Dawson, Geraldine Ennis, Sean Freitag, Christine M. Geschwind, Daniel H. Haines, Jonathan L. Klauck, Sabine M. McMahon, William M. Maestrini, Elena Miller, Judith Monaco, Anthony P. Nelson, Stanley F. Nurnberger, Jr., John I. Oliveira, Guiomar Parr, Jeremy R. Pericak-Vance, Margaret A. Piven, Joseph Schellenberg, Gerard D. Scherer, StephenW. Vicente, Astrid M. Wassink, Thomas H. Wijsman, Ellen M. Betancur, Catalina Buxbaum, Joseph D. Cook, Edwin H. Gallagher, Louise and Gill, Michael Hallmayer, Joachim Paterson, Andrew D. and Sutcliffe, James S. Szatmari, Peter Vieland, Veronica J. and Hakonarson, Hakon Devlin, Bernie

Subjects
mental disorders
Abstract

While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm 1). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.

Published
2012

22. Behaviorale und neuronale Effekte eines Emotionserkennungstrainings bei Autismus-Spektrum-Störungen

Author

Schlitt, Sabine

Subjects
ddc:150
Abstract

Das Hauptziel der vorliegenden Arbeit ist es, die Wirksamkeit eines computerbasierten Emotionserkennungstrainings bei Personen mit Autismus-Spektrum-Störungen (ASS) zu überprüfen. Dies geschieht durch den Vergleich einer mit dem Frankfurter Training des Erkennens von fazialem Affekt (FEFA) trainierten und einer nicht trainierten Personengruppe mit ASS. Das FEFA ist das einzige deutschsprachige Emotionserkennungstraining, das mit dem Ziel entwickelt wurde, die Erkennung von Basisemotionen in Gesichtsausdrücken bei autistischen Menschen zu verbessern. Da ASS mit deutlichen, nicht ursächlich behandelbaren Beeinträchtigungen in der sozialen Interaktion und Kommunikation einhergehen, bieten übende Verfahren eine Möglichkeit, soziale Fertigkeiten aufzubauen und die Symptomatik abzumildern. Das Erkennen emotionaler Zustände anderer Personen stellt eine relevante Basisfähigkeit für angemessenes sozial-kommunikatives Verhalten dar. Autistischen Personen gelingt die Emotionserkennung oft nicht und es gibt Hinweise, dass sie emotionale Gesichtsausdrücke neuronal anders verarbeiten als nicht autistische Menschen. Daher werden in dieser Studie neben Testverfahren zur Emotionserkennung funktionelle Bildgebungsverfahren (fMRT) eingesetzt, um neuronale Aktivierungsmuster mitzuerfassen. Die Studie gliedert sich in zwei Teile. Im ersten Teil wird ein Querschnittsvergleich durchgeführt, bei dem die Emotionserkennungsfertigkeiten durchschnittlich begabter Personen mit ASS (n=40) sowie deren neuronale Aktivierungsmuster bei der Wahrnehmung emotionaler, fazialer Reize mit denen einer, nach Alter und nonverbaler Intelligenz parallelisierten, unauffälligen Kontrollgruppe (n=26) verglichen werden. Diese Vergleiche zeigen, dass der ASS-Gruppe in den verwendeten Emotionserkennungstests deutlich weniger korrekte Zuordnungen gelingen als der unauffälligen Kontrollgruppe. Darüber hinaus weist die ASS-Gruppe auch in einem Gesichtererkennungstest und einem Wortschatztest gegenüber den unauffälligen Kontrollen Beeinträchtigungen auf. In fMRT-Aufgaben zur impliziten Emotionserkennung ist bei den unauffälligen Kontrollen eine Mehraktivierung in neuronalen Arealen, die mit sozial-emotionaler Reizverarbeitung in Zusammenhang stehen, feststellbar, und zwar im fusiformen Gyrus, der Amygdala und auch im dorsalen lateralen präfrontalen Kortex. Bei Aufgaben zur expliziten Emotionserkennung und der Wahrnehmung neutraler Gesichter bestehen keine Unterschiede in den neuronalen Aktivierungen zwischen den Gruppen in den interessierenden Regionen (Regions of Interest). Der zweite Teil der Studie umfasst die Trainingsevaluation. Hierzu wird das FEFA-Training mit 15 autistischen Personen in acht Einzelstunden innerhalb eines Zeitraums von fünf bis sechs Wochen durchgeführt. Die parallelisierte ASS-Kontrollgruppe besteht ebenfalls aus 15 Personen, die keine Intervention erhalten. Die vor dem Training (bzw. der Wartezeit) erfassten Emotionserkennungsfähigkeiten und neuronalen Aktivierungsmuster werden mit den unmittelbar nach dem Training (bzw. der Wartezeit) erhobenen verglichen. Zudem werden zu einem dritten Messzeitpunkt, etwa vier Wochen nach Beendigung des Trainings, die Testleistungen der beiden ASS-Gruppen einander erneut gegenüber gestellt. Die Ergebnisse zeigen, dass die trainierte ASS-Gruppe in allen verwendeten Tests zur Erkennung von Basisemotionen deutliche, stabile Verbesserungen erreicht, die mit einer Mehraktivierung im fusiformen Gyrus und der Amygdala bei Aufgaben zur impliziten Emotionserkennung einhergehen. Keine Verbesserungen werden bei der Erkennung komplexer emotionaler und mentaler Zustände sowie in der, von den Eltern eingeschätzten, affektiven Reaktivität im Alltag erzielt. In einem visuellen Gedächtnistest und einem Konzentrationstest, die zur Kontrolle der Spezifität des Trainings zu allen Messzeitpunkten angewendet werden, sind keine Verbesserungen in der trainierten ASS-Gruppe feststellbar. Somit kann davon ausgegangen werden, dass keine emotionsunspezifischen Fertigkeiten trainiert wurden. Das FEFA-Training wird von den Teilnehmern hinsichtlich des Ablaufs und des subjektiv erlebten Behandlungserfolges als überwiegend positiv bewertet. Insgesamt zeigen die Ergebnisse, dass die Anwendung des FEFA-Trainings über einen relativ kurzen Zeitraum bei autistischen Personen mit normativer Intelligenz die Emotionserkennungsleistung verbessert, allerdings sind darüber hinaus weitere Interventionen erforderlich, um einen Transfer in den Alltag zu ermöglichen.

Published
2011

27. A Close Eye on the Eagle-Eyed Visual Acuity Hypothesis of Autism

Author

Bölte, Sven, primary, Schlitt, Sabine, additional, Gapp, Volker, additional, Hainz, Daniela, additional, Schirman, Shella, additional, Poustka, Fritz, additional, Weber, Bernhard, additional, Freitag, Christine, additional, Ciaramidaro, Angela, additional, and Walter, Henrik, additional

Published
2011
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28. Impaired Gamma-Band Activity during Perceptual Organization in Adults with Autism Spectrum Disorders: Evidence for Dysfunctional Network Activity in Frontal-Posterior Cortices.

Author

Sun, Limin, Grützner, Christine, Bölte, Sven, Wibral, Michael, Tozman, Tahmine, Schlitt, Sabine, Poustka, Fritz, Singer, Wolf, Freitag, Christine M., and Uhlhaas, Peter J.

Subjects
AUTISM spectrum disorders, SENSORY perception, PATHOLOGICAL physiology, NEURAL circuitry, MAGNETOENCEPHALOGRAPHY, NEUROPHYSIOLOGY, NEURAL stimulation
Abstract

Current theories of the pathophysiology of autism spectrum disorders (ASD) have focused on abnormal temporal coordination of neural activity in cortical circuits as a core impairment of the disorder. In the current study, we examined the possibility that gamma-band activity may be crucially involved in aberrant brain functioning in ASD. Magneto-encephalographic (MEG) data were recorded from 13 adult human participants with ASD and 16 controls during the presentation of Mooney faces. MEG data were analyzed in the 25-150 Hz frequency range and a beamforming approach was used to identify the sources of spectral power. Participants with ASD showed elevated reaction times and reduced detection rates during the perception of upright Mooney faces, while responses to inverted stimuli were in the normal range. Impaired perceptual organization in the ASD group was accompanied by a reduction in both the amplitude and phase locking of gamma-band activity. A beamforming approach identified distinct networks during perceptual organization in controls and participants with ASD. In controls, perceptual organization of Mooney faces involved increased 60 -120 Hz activity in a frontoparietal network, while in the ASD group stronger activation was found in visual regions. These findings highlight the contribution of impaired gamma-band activity toward complex visual processing in ASD, suggesting atypical modulation of high-frequency power in frontoposterior networks. [ABSTRACT FROM AUTHOR]

Published
2012
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