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3. Trees for brains: Current residential tree cover density and its association with brain structure in young adults

Author

Kühn, S., https://orcid.org/0000-0001-6823-7969, Banaschewski, T., Bokde, A., Büchel, C., Burke Quinlan, E., Desrivières, S., Flor, H., Grigis, A., Garavan, H., Gowland, P., Heinz, A., Ittermann, B., Martinot, J., Paillère Martinot, M., Nees, F., Papadopoulos Orfanos, D., Paus, T., Poustka, L., Millenet, S., Fröhner, J., Smolka, M., Walter, H., Whelan, R., Schumann, G., Vaidya, N., Meyer-Lindenberg, A., and Gallinat, J.

Published
2023

5. Cortical profiles of numerous psychiatric disorders and normal development share a common pattern.

Author

Cao, Z, Cupertino, RB, Ottino-Gonzalez, J, Murphy, A, Pancholi, D, Juliano, A, Chaarani, B, Albaugh, M, Yuan, D, Schwab, N, Stafford, J, Goudriaan, AE, Hutchison, K, Li, C-SR, Luijten, M, Groefsema, M, Momenan, R, Schmaal, L, Sinha, R, van Holst, RJ, Veltman, DJ, Wiers, RW, Porjesz, B, Lett, T, Banaschewski, T, Bokde, ALW, Desrivières, S, Flor, H, Grigis, A, Gowland, P, Heinz, A, Brühl, R, Martinot, J-L, Martinot, M-LP, Artiges, E, Nees, F, Orfanos, DP, Paus, T, Poustka, L, Hohmann, S, Millenet, S, Fröhner, JH, Robinson, L, Smolka, MN, Walter, H, Winterer, J, Schumann, G, Whelan, R, Bhatt, RR, Zhu, A, Conrod, P, Jahanshad, N, Thompson, PM, Mackey, S, Garavan, H, IMAGEN Consortium, ENIGMA Addiction Working Group, Cao, Z, Cupertino, RB, Ottino-Gonzalez, J, Murphy, A, Pancholi, D, Juliano, A, Chaarani, B, Albaugh, M, Yuan, D, Schwab, N, Stafford, J, Goudriaan, AE, Hutchison, K, Li, C-SR, Luijten, M, Groefsema, M, Momenan, R, Schmaal, L, Sinha, R, van Holst, RJ, Veltman, DJ, Wiers, RW, Porjesz, B, Lett, T, Banaschewski, T, Bokde, ALW, Desrivières, S, Flor, H, Grigis, A, Gowland, P, Heinz, A, Brühl, R, Martinot, J-L, Martinot, M-LP, Artiges, E, Nees, F, Orfanos, DP, Paus, T, Poustka, L, Hohmann, S, Millenet, S, Fröhner, JH, Robinson, L, Smolka, MN, Walter, H, Winterer, J, Schumann, G, Whelan, R, Bhatt, RR, Zhu, A, Conrod, P, Jahanshad, N, Thompson, PM, Mackey, S, Garavan, H, IMAGEN Consortium, and ENIGMA Addiction Working Group

Abstract

The neurobiological bases of the association between development and psychopathology remain poorly understood. Here, we identify a shared spatial pattern of cortical thickness (CT) in normative development and several psychiatric and neurological disorders. Principal component analysis (PCA) was applied to CT of 68 regions in the Desikan-Killiany atlas derived from three large-scale datasets comprising a total of 41,075 neurotypical participants. PCA produced a spatially broad first principal component (PC1) that was reproducible across datasets. Then PC1 derived from healthy adult participants was compared to the pattern of CT differences associated with psychiatric and neurological disorders comprising a total of 14,886 cases and 20,962 controls from seven ENIGMA disease-related working groups, normative maturation and aging comprising a total of 17,697 scans from the ABCD Study® and the IMAGEN developmental study, and 17,075 participants from the ENIGMA Lifespan working group, as well as gene expression maps from the Allen Human Brain Atlas. Results revealed substantial spatial correspondences between PC1 and widespread lower CT observed in numerous psychiatric disorders. Moreover, the PC1 pattern was also correlated with the spatial pattern of normative maturation and aging. The transcriptional analysis identified a set of genes including KCNA2, KCNS1 and KCNS2 with expression patterns closely related to the spatial pattern of PC1. The gene category enrichment analysis indicated that the transcriptional correlations of PC1 were enriched to multiple gene ontology categories and were specifically over-represented starting at late childhood, coinciding with the onset of significant cortical maturation and emergence of psychopathology during the prepubertal-to-pubertal transition. Collectively, the present study reports a reproducible latent pattern of CT that captures interregional profiles of cortical changes in both normative brain maturation and a spectrum of ps

Published
2023

6. A stable and replicable neural signature of lifespan adversity in the adult brain.

Author

Holz, N.E., Zabihi, M., Kia, S.M., Monninger, M., Aggensteiner, P.M., Siehl, S., Floris, D.L., Bokde, A.L.W., Desrivières, S., Flor, H., Grigis, A., Garavan, H., Gowland, P., Heinz, A., Brühl, R., Martinot, J.L., Martinot, M.P., Orfanos, D.P., Paus, T., Poustka, L., Fröhner, J.H., Smolka, M.N., Vaidya, N., Walter, H., Whelan, R., Schumann, G., Meyer-Lindenberg, A., Brandeis, D., Buitelaar, J.K., Nees, F., Beckmann, C., Banaschewski, T., Marquand, A.F., Holz, N.E., Zabihi, M., Kia, S.M., Monninger, M., Aggensteiner, P.M., Siehl, S., Floris, D.L., Bokde, A.L.W., Desrivières, S., Flor, H., Grigis, A., Garavan, H., Gowland, P., Heinz, A., Brühl, R., Martinot, J.L., Martinot, M.P., Orfanos, D.P., Paus, T., Poustka, L., Fröhner, J.H., Smolka, M.N., Vaidya, N., Walter, H., Whelan, R., Schumann, G., Meyer-Lindenberg, A., Brandeis, D., Buitelaar, J.K., Nees, F., Beckmann, C., Banaschewski, T., and Marquand, A.F.

Abstract

01 september 2023, Contains fulltext : 296132.pdf (Publisher’s version ) (Open Access), Environmental adversities constitute potent risk factors for psychiatric disorders. Evidence suggests the brain adapts to adversity, possibly in an adversity-type and region-specific manner. However, the long-term effects of adversity on brain structure and the association of individual neurobiological heterogeneity with behavior have yet to be elucidated. Here we estimated normative models of structural brain development based on a lifespan adversity profile in a longitudinal at-risk cohort aged 25 years (n = 169). This revealed widespread morphometric changes in the brain, with partially adversity-specific features. This pattern was replicated at the age of 33 years (n = 114) and in an independent sample at 22 years (n = 115). At the individual level, greater volume contractions relative to the model were predictive of future anxiety. We show a stable neurobiological signature of adversity that persists into adulthood and emphasize the importance of considering individual-level rather than group-level predictions to explain emerging psychopathology.

Published
2023

7. BDNF Val66Met and reward-related brain function in adolescents: Role for early alcohol consumption

Author

Nees, F., Witt, S.H., Dinu-Biringer, R., Lourdusamy, A., Tzschoppe, J., Vollstädt-Klein, S., Millenet, S., Bach, C., Poustka, L., Banaschewski, T., Barker, G.J., Bokde, A.L.W., Bromberg, U., Büchel, C., Conrod, P.J., Frank, J., Frouin, V., Gallinat, J., Garavan, H., Gowland, P., Heinz, A., Ittermann, B., Mann, K., Martinot, J.-L., Paus, T., Pausova, Z., Robbins, T.W., Smolka, M.N., Rietschel, M., Schumann, G., and Flor, H.

Published
2015
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10. Mothers with a History of Abuse Tend to Show More Impulsiveness

Author

Mohler, E., Matheis, V., Poustka, L., Marysko, M., Finke, P., Kaufmann, C., Reck, C., Cierpka, M., and Resch, F.

Abstract

Background: Maternal history of abuse is a postulated risk factor for child maltreatment. However, there have been no case-control studies on maternal impulsiveness in a larger sample of mothers with a history of abuse. Method: Women in the area of Heidelberg giving birth to a child between May 2005 and June 2007 were contacted by mail and presented with the Childhood Trauma Questionnaire (CTQ). Women who reached a cut-off for moderate or severe sexual and/or physical abuse and whose children were term babies with APGAR-Scores greater than 7 were included in the study to form the index group (n=58). Maternal impulsiveness was assessed at 12 months child age. Results: The results show that mothers with a history of physical or sexual abuse--matched for infant gender, maternal education, marital status, number of infants and birth weight--show significantly more impulsiveness. Conclusions: Maternal history of abuse significantly increases maternal impulsiveness, which has been frequently postulated but never empirically shown in a prospective design. These data underline the necessity to intensify early preventive efforts in mothers with a history of abuse and their young children. Practice implications: These findings identify increased impulsiveness in mothers with a history of abuse as a potential risk factor that should be considered in clinical and counselling settings. (Contains 1 table.)

Published
2009
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12. Predicting Depression Onset in Young People Based on Clinical, Cognitive, Environmental, and Neurobiological Data

Author

Toenders, YJ, Kottaram, A, Dinga, R, Davey, CG, Banaschewski, T, Bokde, ALW, Quinlan, EB, Desrivieres, S, Flor, H, Grigis, A, Garavan, H, Gowland, P, Heinz, A, Bruehl, R, Martinot, J-L, Martinot, M-LP, Nees, F, Orfanos, DP, Lemaitre, H, Paus, T, Poustka, L, Hohmann, S, Froehner, JH, Smolka, MN, Walter, H, Whelan, R, Stringaris, A, van Noort, B, Penttila, J, Grimmer, Y, Insensee, C, Becker, A, Schumann, G, Schmaal, L, Toenders, YJ, Kottaram, A, Dinga, R, Davey, CG, Banaschewski, T, Bokde, ALW, Quinlan, EB, Desrivieres, S, Flor, H, Grigis, A, Garavan, H, Gowland, P, Heinz, A, Bruehl, R, Martinot, J-L, Martinot, M-LP, Nees, F, Orfanos, DP, Lemaitre, H, Paus, T, Poustka, L, Hohmann, S, Froehner, JH, Smolka, MN, Walter, H, Whelan, R, Stringaris, A, van Noort, B, Penttila, J, Grimmer, Y, Insensee, C, Becker, A, Schumann, G, and Schmaal, L

Abstract

Background: Adolescent onset of depression is associated with long-lasting negative consequences. Identifying adolescents at risk for developing depression would enable the monitoring of risk factors and the development of early intervention strategies. Using machine learning to combine several risk factors from multiple modalities might allow prediction of depression onset at the individual level. Methods: A subsample of a multisite longitudinal study in adolescents, the IMAGEN study, was used to predict future (subthreshold) major depressive disorder onset in healthy adolescents. Based on 2-year and 5-year follow-up data, participants were grouped into the following: 1) those developing a diagnosis of major depressive disorder or subthreshold major depressive disorder and 2) healthy control subjects. Baseline measurements of 145 variables from different modalities (clinical, cognitive, environmental, and structural magnetic resonance imaging) at age 14 years were used as input to penalized logistic regression (with different levels of penalization) to predict depression onset in a training dataset (n = 407). The features contributing the highest to the prediction were validated in an independent hold-out sample (three independent IMAGEN sites; n = 137). Results: The area under the receiver operating characteristic curve for predicting depression onset ranged between 0.70 and 0.72 in the training dataset. Baseline severity of depressive symptoms, female sex, neuroticism, stressful life events, and surface area of the supramarginal gyrus contributed most to the predictive model and predicted onset of depression, with an area under the receiver operating characteristic curve between 0.68 and 0.72 in the independent validation sample. Conclusions: This study showed that depression onset in adolescents can be predicted based on a combination multimodal data of clinical characteristics, life events, personality traits, and brain structure variables.

Published
2022

13. Genetic variants associated with longitudinal changes in brain structure across the lifespan

Author

Brouwer, RM, Klein, M, Grasby, KL, Schnack, HG, Jahanshad, N, Teeuw, J, Thomopoulos, SI, Sprooten, E, Franz, CE, Gogtay, N, Kremen, WS, Panizzon, MS, Olde Loohuis, LM, Whelan, CD, Aghajani, M, Alloza, C, Alanaes, D, Artiges, E, Ayesa-Arriola, R, Barker, GJ, Bastin, ME, Blok, E, Boen, E, Breukelaar, IA, Bright, JK, Buimer, EEL, Bulow, R, Cannon, DM, Ciufolini, S, Crossley, NA, Damatac, CG, Dazzan, P, de Mol, CL, de Zwarte, SMC, Desrivieres, S, Diaz-Caneja, CM, Doan, NT, Dohm, K, Froehner, JH, Goltermann, J, Grigis, A, Grotegerd, D, Han, LKM, Harris, MA, Hartman, CA, Heany, SJ, Heindel, W, Heslenfeld, DJ, Hohmann, S, Ittermann, B, Jansen, PR, Janssen, J, Jia, T, Jiang, J, Jockwitz, C, Karali, T, Keeser, D, Koevoets, MGJC, Lenroot, RK, Malchow, B, Mandl, RCW, Medel, V, Meinert, S, Morgan, CA, Muehleisen, TW, Nabulsi, L, Opel, N, de la Foz, VO-G, Overs, BJ, Paillere Martinot, M-L, Redlich, R, Marques, TR, Repple, J, Roberts, G, Roshchupkin, GV, Setiaman, N, Shumskaya, E, Stein, F, Sudre, G, Takahashi, S, Thalamuthu, A, Tordesillas-Gutierrez, D, van der Lugt, A, van Haren, NEM, Wardlaw, JM, Wen, W, Westeneng, H-J, Wittfeld, K, Zhu, AH, Zugman, A, Armstrong, NJ, Bonfiglio, G, Bralten, J, Dalvie, S, Davies, G, Di Forti, M, Ding, L, Donohoe, G, Forstner, AJ, Gonzalez-Penas, J, Guimaraes, JPOFT, Homuth, G, Hottenga, J-J, Knol, MJ, Kwok, JBJ, Le Hellard, S, Mather, KA, Milaneschi, Y, Morris, DW, Noethen, MM, Papiol, S, Rietschel, M, Santoro, ML, Steen, VM, Stein, JL, Streit, F, Tankard, RM, Teumer, A, van 't Ent, D, van der Meer, D, van Eijk, KR, Vassos, E, Vazquez-Bourgon, J, Witt, SH, Adams, HHH, Agartz, I, Ames, D, Amunts, K, Andreassen, OA, Arango, C, Banaschewski, T, Baune, BT, Belangero, SI, Bokde, ALW, Boomsma, DI, Bressan, RA, Brodaty, H, Buitelaar, JK, Cahn, W, Caspers, S, Cichon, S, Crespo-Facorro, B, Cox, SR, Dannlowski, U, Elvsashagen, T, Espeseth, T, Falkai, PG, Fisher, SE, Flor, H, Fullerton, JM, Garavan, H, Gowland, PA, Grabe, HJ, Hahn, T, Heinz, A, Hillegers, M, Hoare, J, Hoekstra, PJ, Ikram, MA, Jackowski, AP, Jansen, A, Jonsson, EG, Kahn, RS, Kircher, T, Korgaonkar, MS, Krug, A, Lemaitre, H, Malt, UF, Martinot, J-L, McDonald, C, Mitchell, PB, Muetzel, RL, Murray, RM, Nees, F, Nenadic, I, Oosterlaan, J, Ophoff, RA, Pan, PM, Penninx, BWJH, Poustka, L, Sachdev, PS, Salum, GA, Schofield, PR, Schumann, G, Shaw, P, Sim, K, Smolka, MN, Stein, DJ, Trollor, JN, van den Berg, LH, Veldink, JH, Walter, H, Westlye, LT, Whelan, R, White, T, Wright, MJ, Medland, SE, Franke, B, Thompson, PM, Hulshoff Pol, HE, Brouwer, RM, Klein, M, Grasby, KL, Schnack, HG, Jahanshad, N, Teeuw, J, Thomopoulos, SI, Sprooten, E, Franz, CE, Gogtay, N, Kremen, WS, Panizzon, MS, Olde Loohuis, LM, Whelan, CD, Aghajani, M, Alloza, C, Alanaes, D, Artiges, E, Ayesa-Arriola, R, Barker, GJ, Bastin, ME, Blok, E, Boen, E, Breukelaar, IA, Bright, JK, Buimer, EEL, Bulow, R, Cannon, DM, Ciufolini, S, Crossley, NA, Damatac, CG, Dazzan, P, de Mol, CL, de Zwarte, SMC, Desrivieres, S, Diaz-Caneja, CM, Doan, NT, Dohm, K, Froehner, JH, Goltermann, J, Grigis, A, Grotegerd, D, Han, LKM, Harris, MA, Hartman, CA, Heany, SJ, Heindel, W, Heslenfeld, DJ, Hohmann, S, Ittermann, B, Jansen, PR, Janssen, J, Jia, T, Jiang, J, Jockwitz, C, Karali, T, Keeser, D, Koevoets, MGJC, Lenroot, RK, Malchow, B, Mandl, RCW, Medel, V, Meinert, S, Morgan, CA, Muehleisen, TW, Nabulsi, L, Opel, N, de la Foz, VO-G, Overs, BJ, Paillere Martinot, M-L, Redlich, R, Marques, TR, Repple, J, Roberts, G, Roshchupkin, GV, Setiaman, N, Shumskaya, E, Stein, F, Sudre, G, Takahashi, S, Thalamuthu, A, Tordesillas-Gutierrez, D, van der Lugt, A, van Haren, NEM, Wardlaw, JM, Wen, W, Westeneng, H-J, Wittfeld, K, Zhu, AH, Zugman, A, Armstrong, NJ, Bonfiglio, G, Bralten, J, Dalvie, S, Davies, G, Di Forti, M, Ding, L, Donohoe, G, Forstner, AJ, Gonzalez-Penas, J, Guimaraes, JPOFT, Homuth, G, Hottenga, J-J, Knol, MJ, Kwok, JBJ, Le Hellard, S, Mather, KA, Milaneschi, Y, Morris, DW, Noethen, MM, Papiol, S, Rietschel, M, Santoro, ML, Steen, VM, Stein, JL, Streit, F, Tankard, RM, Teumer, A, van 't Ent, D, van der Meer, D, van Eijk, KR, Vassos, E, Vazquez-Bourgon, J, Witt, SH, Adams, HHH, Agartz, I, Ames, D, Amunts, K, Andreassen, OA, Arango, C, Banaschewski, T, Baune, BT, Belangero, SI, Bokde, ALW, Boomsma, DI, Bressan, RA, Brodaty, H, Buitelaar, JK, Cahn, W, Caspers, S, Cichon, S, Crespo-Facorro, B, Cox, SR, Dannlowski, U, Elvsashagen, T, Espeseth, T, Falkai, PG, Fisher, SE, Flor, H, Fullerton, JM, Garavan, H, Gowland, PA, Grabe, HJ, Hahn, T, Heinz, A, Hillegers, M, Hoare, J, Hoekstra, PJ, Ikram, MA, Jackowski, AP, Jansen, A, Jonsson, EG, Kahn, RS, Kircher, T, Korgaonkar, MS, Krug, A, Lemaitre, H, Malt, UF, Martinot, J-L, McDonald, C, Mitchell, PB, Muetzel, RL, Murray, RM, Nees, F, Nenadic, I, Oosterlaan, J, Ophoff, RA, Pan, PM, Penninx, BWJH, Poustka, L, Sachdev, PS, Salum, GA, Schofield, PR, Schumann, G, Shaw, P, Sim, K, Smolka, MN, Stein, DJ, Trollor, JN, van den Berg, LH, Veldink, JH, Walter, H, Westlye, LT, Whelan, R, White, T, Wright, MJ, Medland, SE, Franke, B, Thompson, PM, and Hulshoff Pol, HE

Abstract

Human brain structure changes throughout the lifespan. Altered brain growth or rates of decline are implicated in a vast range of psychiatric, developmental and neurodegenerative diseases. In this study, we identified common genetic variants that affect rates of brain growth or atrophy in what is, to our knowledge, the first genome-wide association meta-analysis of changes in brain morphology across the lifespan. Longitudinal magnetic resonance imaging data from 15,640 individuals were used to compute rates of change for 15 brain structures. The most robustly identified genes GPR139, DACH1 and APOE are associated with metabolic processes. We demonstrate global genetic overlap with depression, schizophrenia, cognitive functioning, insomnia, height, body mass index and smoking. Gene set findings implicate both early brain development and neurodegenerative processes in the rates of brain changes. Identifying variants involved in structural brain changes may help to determine biological pathways underlying optimal and dysfunctional brain development and aging.

Published
2022

14. Global urbanicity is associated with brain and behaviour in young people

Author

Xu, J, Liu, X, Li, Q., Goldblatt, R., Qin, W., Liu, F., Chu, C., Luo, Q., Ing, A., Guo, L., Liu, N., Liu, H., Huang, C., Cheng, J., Wang, M., Geng, Z., Zhu, W., Zhang, B., Liao, W., Qiu, S., Zhang, H, Xu, X., Yu, Y, Gao, B., Han, T., Cui, G., Chen, F., Xian, J., Li, J., Zhang, J., Zuo, X.N., Wang, D., Shen, W., Miao, Y., Yuan, F., Lui, S., Zhang, X., Xu, K., Zhang, L., Ye, Z., Banaschewski, T., Barker, G.J., Bokde, A.L., Flor, H., Grigis, A., Garavan, H., Gowland, P., Heinz, A., Brühl, R., Martinot, J.L., Artiges, E., Nees, F., Orfanos, D.P., Lemaitre, H., Paus, T., Poustka, L., Robinson, L., Hohmann, S., Fröhner, J.H., Smolka, M.N., Walter, H., Whelan, R., Winterer, J., Patrick, K., Calhoun, V., Li, M.J., Liang, M., Gong, P., Barker, E.D., Clinton, N., Marquand, A.F., Yu, L., Yu, C., Schumann, G., Xu, J, Liu, X, Li, Q., Goldblatt, R., Qin, W., Liu, F., Chu, C., Luo, Q., Ing, A., Guo, L., Liu, N., Liu, H., Huang, C., Cheng, J., Wang, M., Geng, Z., Zhu, W., Zhang, B., Liao, W., Qiu, S., Zhang, H, Xu, X., Yu, Y, Gao, B., Han, T., Cui, G., Chen, F., Xian, J., Li, J., Zhang, J., Zuo, X.N., Wang, D., Shen, W., Miao, Y., Yuan, F., Lui, S., Zhang, X., Xu, K., Zhang, L., Ye, Z., Banaschewski, T., Barker, G.J., Bokde, A.L., Flor, H., Grigis, A., Garavan, H., Gowland, P., Heinz, A., Brühl, R., Martinot, J.L., Artiges, E., Nees, F., Orfanos, D.P., Lemaitre, H., Paus, T., Poustka, L., Robinson, L., Hohmann, S., Fröhner, J.H., Smolka, M.N., Walter, H., Whelan, R., Winterer, J., Patrick, K., Calhoun, V., Li, M.J., Liang, M., Gong, P., Barker, E.D., Clinton, N., Marquand, A.F., Yu, L., Yu, C., and Schumann, G.

Abstract

Item does not contain fulltext, Urbanicity is a growing environmental challenge for mental health. Here, we investigate correlations of urbanicity with brain structure and function, neuropsychology and mental illness symptoms in young people from China and Europe (total n = 3,867). We developed a remote-sensing satellite measure (UrbanSat) to quantify population density at any point on Earth. UrbanSat estimates of urbanicity were correlated with brain volume, cortical surface area and brain network connectivity in the medial prefrontal cortex and cerebellum. UrbanSat was also associated with perspective-taking and depression symptoms, and this was mediated by neural variables. Urbanicity effects were greatest when urban exposure occurred in childhood for the cerebellum, and from childhood to adolescence for the prefrontal cortex. As UrbanSat can be generalized to different geographies, it may enable assessments of correlations of urbanicity with mental illness and resilience globally.

Published
2022

15. Determinants of satisfaction with the detection process of autism in Europe:results from the ASDEU study

Author

Guillon, Q. (Quentin), Baduel, S. (Sophie), Bejarano-Martín, Á. (Álvaro), Canal-Bedia, R. (Ricardo), Magán-Maganto, M. (María), Fernández-Álvarez, C. (Clara), Martín-Cilleros, M. V. (María Victoria), Sánchez-Gómez, M. C. (María Cruz), García-Primo, P. (Patricia), Rose-Sweeney, M. (Mary), Boilson, A. (Andrew), Linertová, R. (Renata), Roeyers, H. (Herbert), Van Der Paelt, S. (Sara), Schendel, D. (Diana), Kloster Warberg, C. (Christine), Cramer, S. (Susanne), Narzisi, A. (Antonio), Muratori, F. (Filippo), Scattoni, M. L. (María Luisa), Moilanen, I. (Irma), Yliherva, A. (Anneli), Saemundsen, E. (Evald), Jonsdottir, S. L. (Sigridur Loa), Efrim-Budisteanu, M. (Magdalena), Arghir, A. (Aurora), Papuc, S. M. (Sorina Mihaela), Vicente, A. (Astrid), Rasga, C. (Celia), Xenia Kafka, J. (Johanna), Poustka, L. (Luise), Kothgassner, O. D. (Oswald D), Kawa, R. (Rafal), Pisula, E. (Ewa), Sellers, T. (Tracey), Posada De La Paz, M. (Manuel), Rogé, B. (Bernadette), Guillon, Q. (Quentin), Baduel, S. (Sophie), Bejarano-Martín, Á. (Álvaro), Canal-Bedia, R. (Ricardo), Magán-Maganto, M. (María), Fernández-Álvarez, C. (Clara), Martín-Cilleros, M. V. (María Victoria), Sánchez-Gómez, M. C. (María Cruz), García-Primo, P. (Patricia), Rose-Sweeney, M. (Mary), Boilson, A. (Andrew), Linertová, R. (Renata), Roeyers, H. (Herbert), Van Der Paelt, S. (Sara), Schendel, D. (Diana), Kloster Warberg, C. (Christine), Cramer, S. (Susanne), Narzisi, A. (Antonio), Muratori, F. (Filippo), Scattoni, M. L. (María Luisa), Moilanen, I. (Irma), Yliherva, A. (Anneli), Saemundsen, E. (Evald), Jonsdottir, S. L. (Sigridur Loa), Efrim-Budisteanu, M. (Magdalena), Arghir, A. (Aurora), Papuc, S. M. (Sorina Mihaela), Vicente, A. (Astrid), Rasga, C. (Celia), Xenia Kafka, J. (Johanna), Poustka, L. (Luise), Kothgassner, O. D. (Oswald D), Kawa, R. (Rafal), Pisula, E. (Ewa), Sellers, T. (Tracey), Posada De La Paz, M. (Manuel), and Rogé, B. (Bernadette)

Abstract

Satisfaction with the detection process of autism and its determinants was investigated using data from the Autism Spectrum Disorder in the European Union (2015–2018) network. A total of 1342 family members, including 1278 parents, completed an online survey collecting information about their experience and satisfaction with the early detection of autism in their child. Overall, the level of satisfaction varied considerably from one respondent to another. Difficulty in finding information about detection services, lack of professional guidance and support in response to first concerns, finding a diagnostic service on one’s own, and a delay of more than 4 months between the confirmation of concerns and the first appointment with a specialist were all experiences individually associated with greater odds of being less satisfied. Using a dominance analysis approach, we further identified professional guidance and support in response to first concerns as the most important predictor of the level of satisfaction. These findings highlight the aspects of the process that need to be improved to enhance the experience of the detection process and are therefore relevant to guide health administrations toward actions to be implemented to this effect.

Published
2022

16. Brain structural covariance network differences in adults with alcohol dependence and heavy-drinking adolescents

Author

Ottino-Gonzalez, J, Garavan, H, Albaugh, MD, Cao, Z, Cupertino, RB, Schwab, N, Spechler, PA, Allen, N, Artiges, E, Banaschewski, T, Bokde, ALW, Quinlan, EB, Bruehl, R, Orr, C, Cousijn, J, Desrivieres, S, Flor, H, Foxe, JJ, Froehner, JH, Goudriaan, AE, Gowland, P, Grigis, A, Heinz, A, Hester, R, Hutchison, K, Li, C-SR, London, ED, Lorenzetti, V, Luijten, M, Nees, F, Martin-Santos, R, Martinot, J-L, Millenet, S, Momenan, R, Martinot, M-LP, Orfanos, DP, Paulus, MP, Poustka, L, Schmaal, L, Schumann, G, Sinha, R, Smolka, MN, Solowij, N, Stein, DJ, Stein, EA, Uhlmann, A, Holst, RJ, Veltman, DJ, Walter, H, Whelan, R, Wiers, RW, Yucel, M, Zhang, S, Jahanshad, N, Thompson, PM, Conrod, P, Mackey, S, Ottino-Gonzalez, J, Garavan, H, Albaugh, MD, Cao, Z, Cupertino, RB, Schwab, N, Spechler, PA, Allen, N, Artiges, E, Banaschewski, T, Bokde, ALW, Quinlan, EB, Bruehl, R, Orr, C, Cousijn, J, Desrivieres, S, Flor, H, Foxe, JJ, Froehner, JH, Goudriaan, AE, Gowland, P, Grigis, A, Heinz, A, Hester, R, Hutchison, K, Li, C-SR, London, ED, Lorenzetti, V, Luijten, M, Nees, F, Martin-Santos, R, Martinot, J-L, Millenet, S, Momenan, R, Martinot, M-LP, Orfanos, DP, Paulus, MP, Poustka, L, Schmaal, L, Schumann, G, Sinha, R, Smolka, MN, Solowij, N, Stein, DJ, Stein, EA, Uhlmann, A, Holst, RJ, Veltman, DJ, Walter, H, Whelan, R, Wiers, RW, Yucel, M, Zhang, S, Jahanshad, N, Thompson, PM, Conrod, P, and Mackey, S

Abstract

BACKGROUND AND AIMS: Graph theoretic analysis of structural covariance networks (SCN) provides an assessment of brain organization that has not yet been applied to alcohol dependence (AD). We estimated whether SCN differences are present in adults with AD and heavy-drinking adolescents at age 19 and age 14, prior to substantial exposure to alcohol. DESIGN: Cross-sectional sample of adults and a cohort of adolescents. Correlation matrices for cortical thicknesses across 68 regions were summarized with graph theoretic metrics. SETTING AND PARTICIPANTS: A total of 745 adults with AD and 979 non-dependent controls from 24 sites curated by the Enhancing NeuroImaging Genetics through Meta Analysis (ENIGMA)-Addiction consortium, and 297 hazardous drinking adolescents and 594 controls at ages 19 and 14 from the IMAGEN study, all from Europe. MEASUREMENTS: Metrics of network segregation (modularity, clustering coefficient and local efficiency) and integration (average shortest path length and global efficiency). FINDINGS: The younger AD adults had lower network segregation and higher integration relative to non-dependent controls. Compared with controls, the hazardous drinkers at age 19 showed lower modularity [area-under-the-curve (AUC) difference = -0.0142, 95% confidence interval (CI) = -0.1333, 0.0092; P-value = 0.017], clustering coefficient (AUC difference = -0.0164, 95% CI = -0.1456, 0.0043; P-value = 0.008) and local efficiency (AUC difference = -0.0141, 95% CI = -0.0097, 0.0034; P-value = 0.010), as well as lower average shortest path length (AUC difference = -0.0405, 95% CI = -0.0392, 0.0096; P-value = 0.021) and higher global efficiency (AUC difference = 0.0044, 95% CI = -0.0011, 0.0043; P-value = 0.023). The same pattern was present at age 14 with lower clustering coefficient (AUC difference = -0.0131, 95% CI = -0.1304, 0.0033; P-value = 0.024), lower average shortest path length (AUC difference = -0.0362, 95% CI = -0.0334, 0.0118; P-value = 0.019) and higher glo

Published
2022

17. Intervention services for autistic adults:an ASDEU study of autistic adults, carers, and professionals’ experiences

Author

Micai, M. (Martina), Ciaramella, A. (Antonio), Salvitti, T. (Tommaso), Fulceri, F. (Francesca), Fatta, L. M. (Laura Maria), Poustka, L. (Luise), Diehm, R. (Robert), Iskrov, G. (Georgi), Stefanov, R. (Rumen), Guillon, Q. (Quentin), Roge, B. (Bernadette), Staines, A. (Anthony), Sweeney, M. R. (Mary Rose), Boilson, A. M. (Andrew Martin), Leosdottir, T. (Thora), Saemundsen, E. (Evald), Moilanen, I. (Irma), Ebeling, H. (Hanna), Yliherva, A. (Anneli), Gissler, M. (Mika), Parviainen, T. (Tarja), Tani, P. (Pekka), Kawa, R. (Rafal), Vicente, A. (Astrid), Rasga, C. (Celia), Budisteanu, M. (Magdalena), Dale, I. (Ian), Povey, C. (Carol), Flores, N. (Noelia), Jenaro, C. (Cristina), Monroy, M. L. (Maria Luisa), Primo, P. G. (Patricia Garcia), Charman, T. (Tony), Cramer, S. (Susanne), Warberg, C. K. (Christine Kloster), Canal-Bedia, R. (Ricardo), Posada, M. (Manuel), Scattoni, M. L. (Maria Luisa), Schendel, D. (Diana), Micai, M. (Martina), Ciaramella, A. (Antonio), Salvitti, T. (Tommaso), Fulceri, F. (Francesca), Fatta, L. M. (Laura Maria), Poustka, L. (Luise), Diehm, R. (Robert), Iskrov, G. (Georgi), Stefanov, R. (Rumen), Guillon, Q. (Quentin), Roge, B. (Bernadette), Staines, A. (Anthony), Sweeney, M. R. (Mary Rose), Boilson, A. M. (Andrew Martin), Leosdottir, T. (Thora), Saemundsen, E. (Evald), Moilanen, I. (Irma), Ebeling, H. (Hanna), Yliherva, A. (Anneli), Gissler, M. (Mika), Parviainen, T. (Tarja), Tani, P. (Pekka), Kawa, R. (Rafal), Vicente, A. (Astrid), Rasga, C. (Celia), Budisteanu, M. (Magdalena), Dale, I. (Ian), Povey, C. (Carol), Flores, N. (Noelia), Jenaro, C. (Cristina), Monroy, M. L. (Maria Luisa), Primo, P. G. (Patricia Garcia), Charman, T. (Tony), Cramer, S. (Susanne), Warberg, C. K. (Christine Kloster), Canal-Bedia, R. (Ricardo), Posada, M. (Manuel), Scattoni, M. L. (Maria Luisa), and Schendel, D. (Diana)

Abstract

The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services’ use experiences of autistic adults, carers and professionals with interventions for autistic adults. The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults.

Published
2022

19. P.0343 Early detection, diagnosis and intervention services for children with autism spectrum disorder across europe according to the gross domestic product

Author

Bejarano-Martín, Á., primary, Canal-Bedia, R., additional, Magán-Maganto, M., additional, Fernández-Álvarez, C., additional, Martín-Cilleros, M.V., additional, Sánchez-Gómez, M.C., additional, García-Primo, P., additional, Rose-Sweeney, M., additional, Boilson, A., additional, Linertová, R., additional, Roeyers, H., additional, Van der Paelt, S., additional, Schendel, D., additional, Warberg, C., additional, Cramer, S., additional, Narzisi, A., additional, Muratori, F., additional, Scatonni, M.L., additional, Moilanen, I., additional, Yliherva, A., additional, Saemundsen, E., additional, Jónsdóttir, S.L., additional, Efrim-Budisteanu, M., additional, Arghir, A., additional, Papuc, S. Mihaela, additional, Vicente, A., additional, Rasga, C., additional, Rogé, B., additional, Guillon, Q., additional, Baduel, S., additional, Kafka, J. Xenia, additional, Kothgassner, O., additional, Poustka, L., additional, Kawa, R., additional, Pisula, E., additional, Sellers, T., additional, and de la Paz, M. Posada, additional

Published
2021
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21. Resilience and corpus callosum microstructure in adolescence

Author

Galinowski, A., Miranda, R., Lemaitre, H., Paillère Martinot, M.-L., Artiges, E., Vulser, H., Goodman, R., Penttilä, J., Struve, M., Barbot, A., Fadai, T., Poustka, L., Conrod, P., Banaschewski, T., Barker, G. J., Bokde, A., Bromberg, U., Büchel, C., Flor, H., Gallinat, J., Garavan, H., Heinz, A., Ittermann, B., Kappel, V., Lawrence, C., Loth, E., Mann, K., Nees, F., Paus, T., Pausova, Z., Poline, J.-B., Rietschel, M., Robbins, T. W., Smolka, M., Schumann, G., and Martinot, J.-L.

Published
2015
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22. Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group

Author

Jia, T, Chu, C, Liu, Y, van Dongen, J, Papastergios, E, Armstrong, NJ, Bastin, ME, Carrillo-Roa, T, den Braber, A, Harris, M, Jansen, R, Liu, J, Luciano, M, Ori, APS, Santianez, RR, Ruggeri, B, Sarkisyan, D, Shin, J, Sungeun, K, Gutierrez, DT, van't Ent, D, Ames, D, Artiges, E, Bakalkin, G, Banaschewski, T, Bokde, ALW, Brodaty, H, Bromberg, U, Brouwer, R, Buchel, C, Quinlan, EB, Cahn, W, de Zubicaray, G, Ehrlich, S, Ekstrom, TJ, Flor, H, Frohner, JH, Frouin, V, Garavan, H, Gowland, P, Heinz, A, Hoare, J, Ittermann, B, Jahanshad, N, Jiang, J, Kwok, JB, Martin, NG, Martinot, J-L, Mather, KA, McMahon, KL, McRae, AF, Nees, F, Orfanos, DP, Paus, T, Poustka, L, Samann, PG, Schofield, PR, Smolka, MN, Stein, DJ, Strike, LT, Teeuw, J, Thalamuthu, A, Trollor, J, Walter, H, Wardlaw, JM, Wen, W, Whelan, R, Apostolova, LG, Binder, EB, Boomsma, D, Calhoun, V, Crespo-Facorro, B, Deary, IJ, Pol, HH, Ophoff, RA, Pausova, Z, Sachdev, PS, Saykin, A, Wright, MJ, Thompson, PM, Schumann, G, Desrivieres, S, Jia, T, Chu, C, Liu, Y, van Dongen, J, Papastergios, E, Armstrong, NJ, Bastin, ME, Carrillo-Roa, T, den Braber, A, Harris, M, Jansen, R, Liu, J, Luciano, M, Ori, APS, Santianez, RR, Ruggeri, B, Sarkisyan, D, Shin, J, Sungeun, K, Gutierrez, DT, van't Ent, D, Ames, D, Artiges, E, Bakalkin, G, Banaschewski, T, Bokde, ALW, Brodaty, H, Bromberg, U, Brouwer, R, Buchel, C, Quinlan, EB, Cahn, W, de Zubicaray, G, Ehrlich, S, Ekstrom, TJ, Flor, H, Frohner, JH, Frouin, V, Garavan, H, Gowland, P, Heinz, A, Hoare, J, Ittermann, B, Jahanshad, N, Jiang, J, Kwok, JB, Martin, NG, Martinot, J-L, Mather, KA, McMahon, KL, McRae, AF, Nees, F, Orfanos, DP, Paus, T, Poustka, L, Samann, PG, Schofield, PR, Smolka, MN, Stein, DJ, Strike, LT, Teeuw, J, Thalamuthu, A, Trollor, J, Walter, H, Wardlaw, JM, Wen, W, Whelan, R, Apostolova, LG, Binder, EB, Boomsma, D, Calhoun, V, Crespo-Facorro, B, Deary, IJ, Pol, HH, Ophoff, RA, Pausova, Z, Sachdev, PS, Saykin, A, Wright, MJ, Thompson, PM, Schumann, G, and Desrivieres, S

Abstract

DNA methylation, which is modulated by both genetic factors and environmental exposures, may offer a unique opportunity to discover novel biomarkers of disease-related brain phenotypes, even when measured in other tissues than brain, such as blood. A few studies of small sample sizes have revealed associations between blood DNA methylation and neuropsychopathology, however, large-scale epigenome-wide association studies (EWAS) are needed to investigate the utility of DNA methylation profiling as a peripheral marker for the brain. Here, in an analysis of eleven international cohorts, totalling 3337 individuals, we report epigenome-wide meta-analyses of blood DNA methylation with volumes of the hippocampus, thalamus and nucleus accumbens (NAcc)-three subcortical regions selected for their associations with disease and heritability and volumetric variability. Analyses of individual CpGs revealed genome-wide significant associations with hippocampal volume at two loci. No significant associations were found for analyses of thalamus and nucleus accumbens volumes. Cluster-based analyses revealed additional differentially methylated regions (DMRs) associated with hippocampal volume. DNA methylation at these loci affected expression of proximal genes involved in learning and memory, stem cell maintenance and differentiation, fatty acid metabolism and type-2 diabetes. These DNA methylation marks, their interaction with genetic variants and their impact on gene expression offer new insights into the relationship between epigenetic variation and brain structure and may provide the basis for biomarker discovery in neurodegeneration and neuropsychiatric conditions.

Published
2021

23. Real-world experiences in autistic adult diagnostic services and post-diagnostic support and alignment with services guidelines:results from the ASDEU study

Author

Scattoni, M. L. (Maria Luisa), Micai, M. (Martina), Ciaramella, A. (Antonio), Salvitti, T. (Tommaso), Fulceri, F. (Francesca), Fatta, L. M. (Laura Maria), Poustka, L. (Luise), Diehm, R. (Robert), Iskrov, G. (Georgi), Stefanov, R. (Rumen), Guillon, Q. (Quentin), Rogé, B. (Bernadette), Staines, A. (Anthony), Sweeney, M. R. (Mary Rose), Boilson, A. M. (Andrew Martin), Leósdóttir, T. (Thora), Saemundsen, E. (Evald), Moilanen, I. (Irma), Ebeling, H. (Hanna), Yliherva, A. (Anneli), Gissler, M. (Mika), Parviainen, T. (Tarja), Tani, P. (Pekka), Kawa, R. (Rafal), Vicente, A. (Astrid), Rasga, C. (Célia), Budişteanu, M. (Magdalena), Dale, I. (Ian), Povey, C. (Carol), Flores, N. (Noelia), Jenaro, C. (Cristina), Monroy, M. L. (Maria Luisa), Primo, P. G. (Patricia García), Charman, T. (Tony), Cramer, S. (Susanne), Warberg, C. K. (Christine Kloster), Canal-Bedia, R. (Ricardo), Posada, M. (Manuel), Schendel, D. (Diana), Scattoni, M. L. (Maria Luisa), Micai, M. (Martina), Ciaramella, A. (Antonio), Salvitti, T. (Tommaso), Fulceri, F. (Francesca), Fatta, L. M. (Laura Maria), Poustka, L. (Luise), Diehm, R. (Robert), Iskrov, G. (Georgi), Stefanov, R. (Rumen), Guillon, Q. (Quentin), Rogé, B. (Bernadette), Staines, A. (Anthony), Sweeney, M. R. (Mary Rose), Boilson, A. M. (Andrew Martin), Leósdóttir, T. (Thora), Saemundsen, E. (Evald), Moilanen, I. (Irma), Ebeling, H. (Hanna), Yliherva, A. (Anneli), Gissler, M. (Mika), Parviainen, T. (Tarja), Tani, P. (Pekka), Kawa, R. (Rafal), Vicente, A. (Astrid), Rasga, C. (Célia), Budişteanu, M. (Magdalena), Dale, I. (Ian), Povey, C. (Carol), Flores, N. (Noelia), Jenaro, C. (Cristina), Monroy, M. L. (Maria Luisa), Primo, P. G. (Patricia García), Charman, T. (Tony), Cramer, S. (Susanne), Warberg, C. K. (Christine Kloster), Canal-Bedia, R. (Ricardo), Posada, M. (Manuel), and Schendel, D. (Diana)

Abstract

Research providing an evidence-base for autistic adult services is sparse. The Autism Spectrum Disorders in the European Union (ASDEU) network implemented an on-line survey to determine gaps in autistic adult diagnostic evaluation and post-diagnostic support services. More than 55% in all groups experienced most of the recommended features for diagnostic evaluation for autistic adults. In contrast, < 2% of adults or carers, and < 21% of professionals experienced each of the recommended features for post-diagnostic support. In contrast to 61% of professionals, only about 30% of autistic adults and carers had knowledge of good local services models for autism diagnosis in adulthood. There are major differences between good practice guidelines for diagnostic and post-diagnostic care for autistic adults, and what is actually experienced by services users and professionals.

Published
2021

24. Autistic adult health and professional perceptions of it:evidence from the ASDEU project

Author

Micai, M. (Martina), Ciaramella, A. (Antonio), Salvitti, T. (Tommaso), Fulceri, F. (Francesca), Fatta, L. M. (Laura Maria), Poustka, L. (Luise), Diehm, R. (Robert), Iskrov, G. (Georgi), Stefanov, R. (Rumen), Guillon, Q. (Quentin), Rogé, B. (Bernadette), Staines, A. (Anthony), Sweeney, M. R. (Mary Rose), Boilson, A. M. (Andrew Martin), Leósdóttir, T. (Thora), Saemundsen, E. (Evald), Moilanen, I. (Irma), Ebeling, H. (Hanna), Yliherva, A. (Anneli), Gissler, M. (Mika), Parviainen, T. (Tarja), Tani, P. (Pekka), Kawa, R. (Rafal), Vicente, A. (Astrid), Rasga, C. (Célia), Budişteanu, M. (Magdalena), Dale, I. (Ian), Povey, C. (Carol), Flores, N. (Noelia), Jenaro, C. (Cristina), Monroy, M. L. (Maria Luisa), Primo, P. G. (Patricia García), Charman, T. (Tony), Cramer, S. (Susanne), Warberg, C. K. (Christine Kloster), Canal-Bedia, R. (Ricardo), Posada, M. (Manuel), Scattoni, M. L. (Maria Luisa), Schendel, D. (Diana), Micai, M. (Martina), Ciaramella, A. (Antonio), Salvitti, T. (Tommaso), Fulceri, F. (Francesca), Fatta, L. M. (Laura Maria), Poustka, L. (Luise), Diehm, R. (Robert), Iskrov, G. (Georgi), Stefanov, R. (Rumen), Guillon, Q. (Quentin), Rogé, B. (Bernadette), Staines, A. (Anthony), Sweeney, M. R. (Mary Rose), Boilson, A. M. (Andrew Martin), Leósdóttir, T. (Thora), Saemundsen, E. (Evald), Moilanen, I. (Irma), Ebeling, H. (Hanna), Yliherva, A. (Anneli), Gissler, M. (Mika), Parviainen, T. (Tarja), Tani, P. (Pekka), Kawa, R. (Rafal), Vicente, A. (Astrid), Rasga, C. (Célia), Budişteanu, M. (Magdalena), Dale, I. (Ian), Povey, C. (Carol), Flores, N. (Noelia), Jenaro, C. (Cristina), Monroy, M. L. (Maria Luisa), Primo, P. G. (Patricia García), Charman, T. (Tony), Cramer, S. (Susanne), Warberg, C. K. (Christine Kloster), Canal-Bedia, R. (Ricardo), Posada, M. (Manuel), Scattoni, M. L. (Maria Luisa), and Schendel, D. (Diana)

Abstract

The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated the knowledge and health service experiences of users and providers to generate new hypotheses and scientific investigations that would contribute to improvement in health care for autistic adults. An online survey designed for autistic adults, carers of autistic adults, and professionals in adult services was translated into 11 languages and distributed electronically by organizations and in-country adult service facilities in 2017; 522 autistic adults, 442 carers, and 113 professionals provided answers to the health questions. Professionals, the majority in non-medical services, appeared to be poorly informed about whether certain co-occurring conditions were more frequent in autistic adults than typical adults—especially some medical conditions, suicide attempts, accidents, and pain. A minority of autistic adults reported preventive health behaviors such as routine health check-ups. The majority of users and providers expressed the desire to make health care services more user-friendly for autistic adults. Among the three groups, <20% of responders knew an organization or clinician which has developed a way to monitor health, and prevent poor health, that works well for adults on the autism spectrum. The results point to means for better management of co-occurring conditions associated with autism in adulthood in order to reduce hospital admissions and potential areas of improvement in health and social services for autistic adults. Specifically, efforts should be focused on (1) professionals’ education on risks for co-occurring conditions in autistic adults; (2) promoting preventive health behaviors; (3) making services user-friendly for autistic adults and their families; and (4) encouraging knowledge of good local services.

Published
2021

25. Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: findings from the ENIGMA Epigenetics Working Group

Author

Jia, T., Chu, C., Liu, Y., van Dongen, J., Papastergios, E., Armstrong, Nicola, Bastin, M.E., Carrillo-Roa, T., den Braber, A., Harris, M., Jansen, R., Liu, J., Luciano, M., Ori, A.P.S., Roiz Santiañez, R., Ruggeri, B., Sarkisyan, D., Shin, J., Sungeun, K., Tordesillas Gutiérrez, D., van’t Ent, D., Ames, D., Artiges, E., Bakalkin, G., Banaschewski, T., Bokde, A.L.W., Brodaty, H., Bromberg, U., Brouwer, R., Büchel, C., Burke Quinlan, E., Cahn, W., de Zubicaray, G.I., Ehrlich, S., Ekström, T.J., Flor, H., Fröhner, J.H., Frouin, V., Garavan, H., Gowland, P., Heinz, A., Hoare, J., Ittermann, B., Jahanshad, N., Jiang, J., Kwok, J.B., Martin, N.G., Martinot, J.L., Mather, K.A., McMahon, K.L., McRae, A.F., Nees, F., Papadopoulos Orfanos, D., Paus, T., Poustka, L., Sämann, P.G., Schofield, P.R., Smolka, M.N., Stein, D.J., Strike, L.T., Teeuw, J., Thalamuthu, A., Trollor, J., Walter, H., Wardlaw, J.M., Wen, W., Whelan, R., Apostolova, L.G., Binder, E.B., Boomsma, D.I., Calhoun, V., Crespo-Facorro, B., Deary, I.J., Hulshoff Pol, H., Ophoff, R.A., Pausova, Z., Sachdev, P.S., Saykin, A., Wright, M.J., Thompson, P.M., Schumann, G., Desrivières, S., Jia, T., Chu, C., Liu, Y., van Dongen, J., Papastergios, E., Armstrong, Nicola, Bastin, M.E., Carrillo-Roa, T., den Braber, A., Harris, M., Jansen, R., Liu, J., Luciano, M., Ori, A.P.S., Roiz Santiañez, R., Ruggeri, B., Sarkisyan, D., Shin, J., Sungeun, K., Tordesillas Gutiérrez, D., van’t Ent, D., Ames, D., Artiges, E., Bakalkin, G., Banaschewski, T., Bokde, A.L.W., Brodaty, H., Bromberg, U., Brouwer, R., Büchel, C., Burke Quinlan, E., Cahn, W., de Zubicaray, G.I., Ehrlich, S., Ekström, T.J., Flor, H., Fröhner, J.H., Frouin, V., Garavan, H., Gowland, P., Heinz, A., Hoare, J., Ittermann, B., Jahanshad, N., Jiang, J., Kwok, J.B., Martin, N.G., Martinot, J.L., Mather, K.A., McMahon, K.L., McRae, A.F., Nees, F., Papadopoulos Orfanos, D., Paus, T., Poustka, L., Sämann, P.G., Schofield, P.R., Smolka, M.N., Stein, D.J., Strike, L.T., Teeuw, J., Thalamuthu, A., Trollor, J., Walter, H., Wardlaw, J.M., Wen, W., Whelan, R., Apostolova, L.G., Binder, E.B., Boomsma, D.I., Calhoun, V., Crespo-Facorro, B., Deary, I.J., Hulshoff Pol, H., Ophoff, R.A., Pausova, Z., Sachdev, P.S., Saykin, A., Wright, M.J., Thompson, P.M., Schumann, G., and Desrivières, S.

Abstract

DNA methylation, which is modulated by both genetic factors and environmental exposures, may offer a unique opportunity to discover novel biomarkers of disease-related brain phenotypes, even when measured in other tissues than brain, such as blood. A few studies of small sample sizes have revealed associations between blood DNA methylation and neuropsychopathology, however, large-scale epigenome-wide association studies (EWAS) are needed to investigate the utility of DNA methylation profiling as a peripheral marker for the brain. Here, in an analysis of eleven international cohorts, totalling 3337 individuals, we report epigenome-wide meta-analyses of blood DNA methylation with volumes of the hippocampus, thalamus and nucleus accumbens (NAcc)—three subcortical regions selected for their associations with disease and heritability and volumetric variability. Analyses of individual CpGs revealed genome-wide significant associations with hippocampal volume at two loci. No significant associations were found for analyses of thalamus and nucleus accumbens volumes. Cluster-based analyses revealed additional differentially methylated regions (DMRs) associated with hippocampal volume. DNA methylation at these loci affected expression of proximal genes involved in learning and memory, stem cell maintenance and differentiation, fatty acid metabolism and type-2 diabetes. These DNA methylation marks, their interaction with genetic variants and their impact on gene expression offer new insights into the relationship between epigenetic variation and brain structure and may provide the basis for biomarker discovery in neurodegeneration and neuropsychiatric conditions.

Published
2021

29. White-matter microstructure and gray-matter volumes in adolescents with subthreshold bipolar symptoms

Author

Martinot, Paillère M-L, Lemaitre, H, Artiges, E, Miranda, R, Goodman, R, Penttilä, J, Struve, M, Fadai, T, Kappel, V, Poustka, L, Conrod, P, Banaschewski, T, Barbot, A, Barker, G J, Büchel, C, Flor, H, Gallinat, J, Garavan, H, Heinz, A, Ittermann, B, Lawrence, C, Loth, E, Mann, K, Paus, T, Pausova, Z, Rietschel, M, Robbins, T W, Smolka, M N, Schumann, G, and Martinot, J-L

Published
2014
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30. Saccade dysmetria indicates attenuated visual exploration in autism spectrum disorder

Author

Bast, N., Mason, L., Freitag, C.M., Smith, Tim J., Portugal, A.M., Poustka, L., Banaschewski, T., and Johnson, Mark H.

Subjects
psyc, genetic structures
Abstract

Background:\ud Visual exploration in autism spectrum disorder (ASD) is characterized by attenuated social attention. The underlying oculomotor function during visual exploration is understudied, whereas oculomotor function during restricted viewing suggested saccade dysmetria in ASD by altered pontocerebellar motor modulation.\ud \ud Methods:\ud Oculomotor function was recorded using remote eye tracking in 142 ASD participants and 142 matched neurotypical controls during free viewing of naturalistic videos with and without human content. The sample was heterogenous concerning age (6–30 years), cognitive ability (60–140 IQ), and male/female ratio (3:1). Oculomotor function was defined as saccade, fixation, and pupil‐dilation features that were compared between groups in linear mixed models. Oculomotor function was investigated as ASD classifier and features were correlated with clinical measures.\ud \ud Results:\ud We observed decreased saccade duration (∆M = −0.50, CI [−0.21, −0.78]) and amplitude (∆M = −0.42, CI [−0.12, −0.72]), which was independent of human video content. We observed null findings concerning fixation and pupil‐dilation features (POWER = .81). Oculomotor function is a valid ASD classifier comparable to social attention concerning discriminative power. Within ASD, saccade features correlated with measures of restricted and repetitive behavior.\ud \ud Conclusions:\ud We conclude saccade dysmetria as ASD oculomotor phenotype relevant to visual exploration. Decreased saccade amplitude and duration indicate spatially clustered fixations that attenuate visual exploration and emphasize endogenous over exogenous attention. We propose altered pontocerebellar motor modulation as underlying mechanism that contributes to atypical (oculo‐)motor coordination and attention function in ASD.

Published
2020

31. Correction to: Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives (Journal of Autism and Developmental Disorders, (2020), 50, 9, (3380-3394), 10.1007/s10803-019-04253-0)

Author

Bejarano-Martin, A., Canal-Bedia, R., Magan-Maganto, M., Fernandez-Alvarez, C., Martin-Cilleros, M. V., Sanchez-Gomez, M. C., Garcia-Primo, P., Rose-Sweeney, M., Boilson, A., Linertova, R., Roeyers, H., Van der Paelt, S., Schendel, D., Warberg, C., Cramer, S., Narzisi, A., Muratori, F., Scattoni, M. L., Moilanen, I., Yliherva, A., Saemundsen, E., Loa Jonsdottir, S., Efrim-Budisteanu, M., Arghir, A., Papuc, S. M., Vicente, A., Rasga, C., Roge, B., Guillon, Q., Baduel, S., Kafka, J. X., Poustka, L., Kothgassner, O. D., Kawa, R., Pisula, E., Sellers, T., and Posada de la Paz, M.

Published
2020

32. Early detection, diagnosis and intervention services for young children with autism spectrum disorder in the European Union (ASDEU):family and professional perspectives

Author

Bejarano-Martin, A. (Alvaro), Canal-Bedia, R. (Ricardo), Magan-Maganto, M. (Maria), Fernandez-Alvarez, C. (Clara), Cilleros-Martin, M. V. (Maria Victoria), Sanchez-Gomez, M. C. (Maria Cruz), Garcia-Primo, P. (Patricia), Rose-Sweeney, M. (Mary), Boilson, A. (Andrew), Linertova, R. (Renata), Roeyers, H. (Herbert), Van der Paelt, S. (Sara), Schendel, D. (Diana), Warberg, C. (Christine), Cramer, S. (Susanne), Narzisi, A. (Antonio), Muratori, F. (Filippo), Scattoni, M. L. (Maria Luisa), Moilanen, I. (Irma), Yliherva, A. (Anneli), Saemundsen, E. (Evald), Loa Jonsdottir, S. (Sigridur), Efrim-Budisteanu, M. (Magdalena), Arghir, A. (Aurora), Papuc, S. M. (Sorina Mihaela), Vicente, A. (Astrid), Rasga, C. (Celia), Roge, B. (Bernadette), Guillon, Q. (Quentin), Baduel, S. (Sophie), Kafka, J. X. (Johanna Xenia), Poustka, L. (Luise), Kothgassner, O. D. (Oswald D.), Kawa, R. (Rafal), Pisula, E. (Ewa), Sellers, T. (Tracey), Posada de la Paz, M. (Manuel), Bejarano-Martin, A. (Alvaro), Canal-Bedia, R. (Ricardo), Magan-Maganto, M. (Maria), Fernandez-Alvarez, C. (Clara), Cilleros-Martin, M. V. (Maria Victoria), Sanchez-Gomez, M. C. (Maria Cruz), Garcia-Primo, P. (Patricia), Rose-Sweeney, M. (Mary), Boilson, A. (Andrew), Linertova, R. (Renata), Roeyers, H. (Herbert), Van der Paelt, S. (Sara), Schendel, D. (Diana), Warberg, C. (Christine), Cramer, S. (Susanne), Narzisi, A. (Antonio), Muratori, F. (Filippo), Scattoni, M. L. (Maria Luisa), Moilanen, I. (Irma), Yliherva, A. (Anneli), Saemundsen, E. (Evald), Loa Jonsdottir, S. (Sigridur), Efrim-Budisteanu, M. (Magdalena), Arghir, A. (Aurora), Papuc, S. M. (Sorina Mihaela), Vicente, A. (Astrid), Rasga, C. (Celia), Roge, B. (Bernadette), Guillon, Q. (Quentin), Baduel, S. (Sophie), Kafka, J. X. (Johanna Xenia), Poustka, L. (Luise), Kothgassner, O. D. (Oswald D.), Kawa, R. (Rafal), Pisula, E. (Ewa), Sellers, T. (Tracey), and Posada de la Paz, M. (Manuel)

Abstract

Early services for ASD need to canvas the opinions of both parents and professionals. These opinions are seldom compared in the same research study. This study aims to ascertain the views of families and professionals on early detection, diagnosis and intervention services for young children with ASD. An online survey compiled and analysed data from 2032 respondents across 14 European countries (60.9% were parents; 39.1% professionals). Using an ordinal scale from 1 to 7, parents’ opinions were more negative (mean = 4.6; SD 2.2) compared to those of professionals (mean = 4.9; SD 1.5) when reporting satisfaction with services. The results suggest services should take into account child’s age, delays in accessing services, and active stakeholders’ participation when looking to improve services.

Published
2020

35. Autistic adult diagnosis, co-occurring conditions and interventions: good practices, services gaps, areas for improvement

Author

Scattoni, Ml, Micai, M, Ciaramella, A, Fulceri, F, Fatta, Lm, Salvitti, T, Poustka, L, Diehm, R, Iskrov, G, Stefanov, R, Guillon, Q, Rogé, B, Staines, A, Sweeny, Mr, Boilson, Am, Leósdóttir, T, Saemundsen, E, Moilanen, I, Ebeling, H, Yliherva, A, Gissler, M, Parviainen, T, Tani, P, Kawa, R, Vicente, A, Rasga, C, Budisteanu, M, Dale, I, Povey, C, Flores, N, Jenaro, C, Monroy, Ml, Primo, Pg, Charman, T, Cramer, S, Kloster, Wc, Posada, M, and Schendel, D.

Subjects
xx
Published
2019

36. Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes: Findings from the ENIGMA Epigenetics Working Group

Author

Jia, T., Chu, C., Liu, Y., van Dongen, J., Papastergios, E., Armstrong, N.J., Bastin, M.E., Carrillo-Roa, T., den Braber, A., Harris, M., Jansen, R., Liu, J., Luciano, M., Ori, A.P.S., Roiz Santiañez, R., Ruggeri, B., Sarkisyan, D., Shin, J., Sungeun, K., Tordesillas Gutiérrez, D., van’t Ent, D., Ames, D., Artiges, E., Bakalkin, G., Banaschewski, T., Bokde, A.L.W., Brodaty, H., Bromberg, U., Brouwer, R., Büchel, C., Burke Quinlan, E., Cahn, W., de Zubicaray, G.I., Ehrlich, S., Ekström, T.J., Flor, H., Fröhner, J.H., Frouin, V., Garavan, H., Gowland, P., Heinz, A., Hoare, J., Ittermann, B., Jahanshad, N., Jiang, J., Kwok, J.B., Martin, N.G., Martinot, J-L, Mather, K.A., McMahon, K.L., McRae, A.F., Nees, F., Papadopoulos Orfanos, D., Paus, T., Poustka, L., Sämann, P.G., Schofield, P.R., Smolka, M.N., Stein, D.J., Strike, L.T., Teeuw, J., Thalamuthu, A., Trollor, J., Walter, H., Wardlaw, J.M., Wen, W., Whelan, R., Apostolova, L.G., Binder, E.B., Boomsma, D.I., Calhoun, V., Crespo-Facorro, B., Deary, I.J., Hulshoff Pol, H.E., Ophoff, R.A., Pausova, Z., Sachdev, P.S., Saykin, A., Wright, M.J., Thompson, P.M., Schumann, G., Desrivières, S., Jia, T., Chu, C., Liu, Y., van Dongen, J., Papastergios, E., Armstrong, N.J., Bastin, M.E., Carrillo-Roa, T., den Braber, A., Harris, M., Jansen, R., Liu, J., Luciano, M., Ori, A.P.S., Roiz Santiañez, R., Ruggeri, B., Sarkisyan, D., Shin, J., Sungeun, K., Tordesillas Gutiérrez, D., van’t Ent, D., Ames, D., Artiges, E., Bakalkin, G., Banaschewski, T., Bokde, A.L.W., Brodaty, H., Bromberg, U., Brouwer, R., Büchel, C., Burke Quinlan, E., Cahn, W., de Zubicaray, G.I., Ehrlich, S., Ekström, T.J., Flor, H., Fröhner, J.H., Frouin, V., Garavan, H., Gowland, P., Heinz, A., Hoare, J., Ittermann, B., Jahanshad, N., Jiang, J., Kwok, J.B., Martin, N.G., Martinot, J-L, Mather, K.A., McMahon, K.L., McRae, A.F., Nees, F., Papadopoulos Orfanos, D., Paus, T., Poustka, L., Sämann, P.G., Schofield, P.R., Smolka, M.N., Stein, D.J., Strike, L.T., Teeuw, J., Thalamuthu, A., Trollor, J., Walter, H., Wardlaw, J.M., Wen, W., Whelan, R., Apostolova, L.G., Binder, E.B., Boomsma, D.I., Calhoun, V., Crespo-Facorro, B., Deary, I.J., Hulshoff Pol, H.E., Ophoff, R.A., Pausova, Z., Sachdev, P.S., Saykin, A., Wright, M.J., Thompson, P.M., Schumann, G., and Desrivières, S.

Abstract

DNA methylation, which is modulated by both genetic factors and environmental exposures, may offer a unique opportunity to discover novel biomarkers of disease-related brain phenotypes, even when measured in other tissues than brain, such as blood. A few studies of small sample sizes have revealed associations between blood DNA methylation and neuropsychopathology, however, large-scale epigenome-wide association studies (EWAS) are needed to investigate the utility of DNA methylation profiling as a peripheral marker for the brain. Here, in an analysis of eleven international cohorts, totalling 3337 individuals, we report epigenome-wide meta-analyses of blood DNA methylation with volumes of the hippocampus, thalamus and nucleus accumbens (NAcc)—three subcortical regions selected for their associations with disease and heritability and volumetric variability. Analyses of individual CpGs revealed genome-wide significant associations with hippocampal volume at two loci. No significant associations were found for analyses of thalamus and nucleus accumbens volumes. Cluster-based analyses revealed additional differentially methylated regions (DMRs) associated with hippocampal volume. DNA methylation at these loci affected expression of proximal genes involved in learning and memory, stem cell maintenance and differentiation, fatty acid metabolism and type-2 diabetes. These DNA methylation marks, their interaction with genetic variants and their impact on gene expression offer new insights into the relationship between epigenetic variation and brain structure and may provide the basis for biomarker discovery in neurodegeneration and neuropsychiatric conditions.

Published
2019

37. Identification of neurobehavioural symptom groups based on shared brain mechanisms

Author

Ing, A., Samann, P.G., Chu, C., Tay, N., Biondo, F., Robert, G., Jia, T., Wolfers, T., Desrivieres, S., Banaschewski, T., Bokde, A.L., Bromberg, U., Buchel, C., Conrod, P., Fadai, T., Flor, H., Frouin, V., Garavan, H., Spechler, P.A., Gowland, P., Grimmer, Y., Heinz, A., Ittermann, B., Kappel, V., Martinot, J.L., Meyer-Lindenberg, A., Millenet, S., Nees, F., Noort, B. van, Orfanos, D.P., Martinot, M.P., Penttila, J., Poustka, L., Quinlan, E.B., Smolka, M.N., Stringaris, A., Struve, M., Veer, I.M., Walter, H., Whelan, R., Andreassen, O.A., Agartz, I., Lemaitre, H., Barker, E.D., Ashburner, J., Binder, E., Buitelaar, J.K., Marquand, A.F., Robbins, T.W, Schumann, G., Ing, A., Samann, P.G., Chu, C., Tay, N., Biondo, F., Robert, G., Jia, T., Wolfers, T., Desrivieres, S., Banaschewski, T., Bokde, A.L., Bromberg, U., Buchel, C., Conrod, P., Fadai, T., Flor, H., Frouin, V., Garavan, H., Spechler, P.A., Gowland, P., Grimmer, Y., Heinz, A., Ittermann, B., Kappel, V., Martinot, J.L., Meyer-Lindenberg, A., Millenet, S., Nees, F., Noort, B. van, Orfanos, D.P., Martinot, M.P., Penttila, J., Poustka, L., Quinlan, E.B., Smolka, M.N., Stringaris, A., Struve, M., Veer, I.M., Walter, H., Whelan, R., Andreassen, O.A., Agartz, I., Lemaitre, H., Barker, E.D., Ashburner, J., Binder, E., Buitelaar, J.K., Marquand, A.F., Robbins, T.W, and Schumann, G.

Abstract

Item does not contain fulltext, Most psychopathological disorders develop in adolescence. The biological basis for this development is poorly understood. To enhance diagnostic characterization and develop improved targeted interventions, it is critical to identify behavioural symptom groups that share neural substrates. We ran analyses to find relationships between behavioural symptoms and neuroimaging measures of brain structure and function in adolescence. We found two symptom groups, consisting of anxiety/depression and executive dysfunction symptoms, respectively, that correlated with distinct sets of brain regions and inter-regional connections, measured by structural and functional neuroimaging modalities. We found that the neural correlates of these symptom groups were present before behavioural symptoms had developed. These neural correlates showed case-control differences in corresponding psychiatric disorders, depression and attention deficit hyperactivity disorder in independent clinical samples. By characterizing behavioural symptom groups based on shared neural mechanisms, our results provide a framework for developing a classification system for psychiatric illness that is based on quantitative neurobehavioural measures.

Published
2019

38. Epigenetic variance in dopamine D2 receptor: a marker of IQ malleability?

Author

Kaminski, J., Schlagenhauf, F., Rapp, M., Awasthi, S., Ruggeri, B., Deserno, L., Banaschewski, T., Bokde, A., Bromberg, U., Büchel , C., Quinlan, E., Desrivières, S., Flor, H., Frouin, V., Garavan, H., Gowland , P., Ittermann, B., Martinot, J., Paillère Martinot, M., Nees, F., Orfanos, D., Paus, T., Poustka, L., Smolka, M., Fröhner, J., Walter, H., Whelan, R., Ripke, S., Schumann, G., Heinz, A., and The IMAGEN Consortium

Subjects
Intelligence Tests, Male, Adolescent, Receptors, Dopamine D2, Dopamine, striatum, Intelligence, human intelligence, reward anticipation, prediction, psychopathology, Corpus Striatum, Article, Epigenesis, Genetic, stress, genome-wide association, Humans, Female, human brain, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit, metaanalysis
Abstract

Genetic and environmental factors both contribute to cognitive test performance. A substantial increase in average intelligence test results in the second half of the previous century within one generation is unlikely to be explained by genetic changes. One possible explanation for the strong malleability of cognitive performance measure is that environmental factors modify gene expression via epigenetic mechanisms. Epigenetic factors may help to understand the recent observations of an association between dopamine-dependent encoding of reward prediction errors and cognitive capacity, which was modulated by adverse life events. The possible manifestation of malleable biomarkers contributing to variance in cognitive test performance, and thus possibly contributing to the “missing heritability” between estimates from twin studies and variance explained by genetic markers, is still unclear. Here we show in 1475 healthy adolescents from the IMaging and GENetics (IMAGEN) sample that general IQ (gIQ) is associated with (1) polygenic scores for intelligence, (2) epigenetic modification of DRD2 gene, (3) gray matter density in striatum, and (4) functional striatal activation elicited by temporarily surprising reward-predicting cues. Comparing the relative importance for the prediction of gIQ in an overlapping subsample, our results demonstrate neurobiological correlates of the malleability of gIQ and point to equal importance of genetic variance, epigenetic modification of DRD2 receptor gene, as well as functional striatal activation, known to influence dopamine neurotransmission. Peripheral epigenetic markers are in need of confirmation in the central nervous system and should be tested in longitudinal settings specifically assessing individual and environmental factors that modify epigenetic structure.

Published
2018

40. Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper

Author

Zhang, D., Roche, L., Bartl-Pokorny, K., Krieber, M., McLay, L., Bolte, Sven, Poustka, L., Sigafoos, J., Gugatschka, M., Einspieler, C., Marschik, P., Zhang, D., Roche, L., Bartl-Pokorny, K., Krieber, M., McLay, L., Bolte, Sven, Poustka, L., Sigafoos, J., Gugatschka, M., Einspieler, C., and Marschik, P.

Abstract

Background: Responding to one's own name (RtN) has been reported as atypical in children with developmental disorders, yet comparative studies on RtN across syndromes are rare. Aims: We aim to (a) overview the literature on RtN in different developmental disorders during the first 24 months of life, and (b) report comparative data on RtN across syndromes. Methods and procedures: In Part 1, a literature search, focusing on RtN in children during the first 24 months of life with developmental disorders, identified 23 relevant studies. In Part 2, RtN was assessed utilizing retrospective video analysis for infants later diagnosed with ASD, RTT, or FXS, and typically developing peers. Outcomes and results: Given a variety of methodologies and instruments applied to assess RtN, 21/23 studies identified RtN as atypical in infants with a developmental disorder. We observed four different developmental trajectories of RtN in ASD, RTT, PSV, and FXS from 9 to 24 months of age. Between-group differences became more distinctive with age. Conclusions and implications: RtN may be a potential parameter of interest in a comprehensive early detection model characterising age-specific neurofunctional biomarkers associated with specific disorders, and contribute to early identification.

Published
2018

41. Study protocol of the ASD-Net, the German research consortium for the study of Autism Spectrum Disorder across the lifespan: From a better etiological understanding, through valid diagnosis, to more effective health care

Author

Kamp-Becker, I., Poustka, L., Bachmann, C., Ehrlich, S., Hoffmann, F., Kanske, P., Kirsch, P., Krach, S., Paulus, F., Rietschel, M., Roepke, S., Roesner, V., Schad-Hansjosten, T., Singer, T., Stroth, S., Witt, S., and Wermter, A.

Subjects
Male, Biomedical Research, lcsh:RC435-571, Autism Spectrum Disorder, ASD-net, Research, Oxytocin, behavioral disciplines and activities, Study Protocol, Genetic, Social competence training, lcsh:Psychiatry, Germany, Diagnosis, mental disorders, Screening, Humans, Disabled Persons, Female, Therapy, Cooperative Behavior, Health economics, German research network for mental disorders, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
Abstract

Background Autism Spectrum Disorder (ASD) is a severe, lifelong neurodevelopmental disorder with early onset that places a heavy burden on affected individuals and their families. Due to the need for highly specialized health, educational and vocational services, ASD is a cost-intensive disorder, and strain on health care systems increases with increasing age of the affected individual. Methods The ASD-Net will study Germany’s largest cohort of patients with ASD over the lifespan. By combining methodological expertise from all levels of clinical research, the ASD-Net will follow a translational approach necessary to identify neurobiological pathways of different phenotypes and their appropriate identification and treatment. The work of the ASD-Net will be organized into three clusters concentrating on diagnostics, therapy and health economics. In the diagnostic cluster, data from a large, well-characterized sample (N = 2568) will be analyzed to improve the efficiency of diagnostic procedures. Pattern classification methods (machine learning) will be used to identify algorithms for screening purposes. In a second step, the developed algorithm will be tested in an independent sample. In the therapy cluster, we will unravel how an ASD-specific social skills training with concomitant oxytocin administration can modulate behavior through neurobiological pathways. For the first time, we will characterize long-term effects of a social skills training combined with oxytocin treatment on behavioral and neurobiological phenotypes. Also acute effects of oxytocin will be investigated to delineate general and specific effects of additional oxytocin treatment in order to develop biologically plausible models for symptoms and successful therapeutic interventions in ASD. Finally, in the health economics cluster, we will assess service utilization and ASD-related costs in order to identify potential needs and cost savings specifically tailored to Germany. The ASD-Net has been established as part of the German Research Network for Mental Disorders, funded by the BMBF (German Federal Ministry of Education and Research). Discussion The highly integrated structure of the ASD-Net guarantees sustained collaboration of clinicians and researchers to alleviate individual distress, harm, and social disability of patients with ASD and reduce costs to the German health care system. Trial registration Both clinical trials of the ASD-Net are registered in the German Clinical Trials Register: DRKS00008952 (registered on August 4, 2015) and DRKS00010053 (registered on April 8, 2016). peerReviewed

Published
2017

42. ASD prevalence study across Europe: developing a school-based screening approach in the ASDEU project

Author

García Primo, P., Schendel, D., Partner, E., Rasga, C., Café, C., Rogé, B., Arnaud, C., Saemundsen, E., Muratori, F., Narzisi, A., Boilson, A., Oliveira, G., Fuentes, J., Poustka, L., Scattonni, M.L., Gissler, M., Sweeny, M.R., Budisteanu, M., Kawa, R., Canal-Bedia, R., Stefanov, R., Van Bakel, M.E., Vicente, A.M., and Posada, M.

Subjects
Europe, ASDEU, Autism Spectrum Disorder, Perturbações do Desenvolvimento Infantil e Saúde Mental
Abstract

Objectives: The main objective of the present work is to describe the strategy of the Autism Spectrum Disorder in the European Union (ASDEU) project to estimate the prevalence of ASD in school-aged children (7-9 years) across Europe. The focus of the presentation is on the novel field study strategy and aims to be a reflection on what we have learned regarding standardization of study methods across sites, what has worked well and what could be done differently in the future. Funding: Service Contract NUMBER -DG-SANTÉ/2014/C2/035. N/A

Published
2017

43. Psychosocial Stress and Brain Function in Adolescent Psychopathology

Author

Quinlan, E.B., Cattrell, A., Jia, T., Artiges, E., Banaschewski, T., Barker, G., Bokde, A.L., Bromberg, U., Buchel, C., Bruhl, R., Conrod, P.J., Desrivieres, S., Flor, H., Frouin, V., Gallinat, J., Garavan, H., Gowland, P., Heinz, A., Martinot, J.L., Martinot, M.L.P, Nees, F., Papadopoulos-Orfanos, D., Paus, T., Poustka, L., Smolka, M.N., Vetter, N.C., Walter, H., Whelan, R., Glennon, J.C., Buitelaar, J.K., Happe, F., Loth, E., Barker, E.D., Schumann, G., Quinlan, E.B., Cattrell, A., Jia, T., Artiges, E., Banaschewski, T., Barker, G., Bokde, A.L., Bromberg, U., Buchel, C., Bruhl, R., Conrod, P.J., Desrivieres, S., Flor, H., Frouin, V., Gallinat, J., Garavan, H., Gowland, P., Heinz, A., Martinot, J.L., Martinot, M.L.P, Nees, F., Papadopoulos-Orfanos, D., Paus, T., Poustka, L., Smolka, M.N., Vetter, N.C., Walter, H., Whelan, R., Glennon, J.C., Buitelaar, J.K., Happe, F., Loth, E., Barker, E.D., and Schumann, G.

Abstract

Item does not contain fulltext, OBJECTIVE: The authors sought to explore how conduct, hyperactivity/inattention, and emotional symptoms are associated with neural reactivity to social-emotional stimuli, and the extent to which psychosocial stress modulates these relationships. METHOD: Participants were community adolescents recruited as part of the European IMAGEN study. Bilateral amygdala regions of interest were used to assess the relationship between the three symptom domains and functional MRI neural reactivity during passive viewing of dynamic angry and neutral facial expressions. Exploratory functional connectivity and whole brain multiple regression approaches were used to analyze how the symptoms and psychosocial stress relate to other brain regions. RESULTS: In response to the social-emotional stimuli, adolescents with high levels of conduct or hyperactivity/inattention symptoms who had also experienced a greater number of stressful life events showed hyperactivity of the amygdala and several regions across the brain. This effect was not observed with emotional symptoms. A cluster in the midcingulate was found to be common to both conduct problems and hyperactivity symptoms. Exploratory functional connectivity analyses suggested that amygdala-precuneus connectivity is associated with hyperactivity/inattention symptoms. CONCLUSIONS: The results link hyperactive amygdala responses and regions critical for top-down emotional processing with high levels of psychosocial stress in individuals with greater conduct and hyperactivity/inattention symptoms. This work highlights the importance of studying how psychosocial stress affects functional brain responses to social-emotional stimuli, particularly in adolescents with externalizing symptoms.

Published
2017

44. Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex

Author

Guadalupe, T, Mathias, SR, vanErp, TGM, Whelan, CD, Zwiers, MP, Abe, Y, Abramovic, L, Agartz, I, Andreassen, OA, Arias-Vásquez, A, Aribisala, BS, Armstrong, NJ, Arolt, V, Artiges, E, Ayesa-Arriola, R, Baboyan, VG, Banaschewski, T, Barker, G, Bastin, ME, Baune, BT, Blangero, J, Bokde, ALW, Boedhoe, PSW, Bose, A, Brem, S, Brodaty, H, Bromberg, U, Brooks, S, Büchel, C, Buitelaar, J, Calhoun, VD, Cannon, DM, Cattrell, A, Cheng, Y, Conrod, PJ, Conzelmann, A, Corvin, A, Crespo-Facorro, B, Crivello, F, Dannlowski, U, de Zubicaray, GI, de Zwarte, SMC, Deary, IJ, Desrivières, S, Doan, NT, Donohoe, G, Dørum, ES, Ehrlich, S, Espeseth, T, Fernández, G, Flor, H, Fouche, J-P, Frouin, V, Fukunaga, M, Gallinat, J, Garavan, H, Gill, M, Suarez, AG, Gowland, P, Grabe, HJ, Grotegerd, D, Gruber, O, Hagenaars, S, Hashimoto, R, Hauser, TU, Heinz, A, Hibar, DP, Hoekstra, PJ, Hoogman, M, Howells, FM, Hu, H, Hulshoff Pol, HE, Huyser, C, Ittermann, B, Jahanshad, N, Jönsson, EG, Jurk, S, Kahn, RS, Kelly, S, Kraemer, B, Kugel, H, Kwon, JS, Lemaitre, H, Lesch, K-P, Lochner, C, Luciano, M, Marquand, AF, Martin, NG, Martínez-Zalacaín, I, Martinot, J-L, Mataix-Cols, D, Mather, K, McDonald, C, McMahon, KL, Medland, SE, Menchón, JM, Morris, DW, Mothersill, O, Maniega, SM, Mwangi, B, Nakamae, T, Nakao, T, Narayanaswaamy, JC, Nees, F, Nordvik, JE, Onnink, AMH, Opel, N, Ophoff, R, Paillère Martinot, M-L, Papadopoulos Orfanos, D, Pauli, P, Paus, T, Poustka, L, Reddy, JY, Renteria, ME, Roiz-Santiáñez, R, Roos, A, Royle, NA, Sachdev, P, Sánchez-Juan, P, Schmaal, L, Schumann, G, Shumskaya, E, Smolka, MN, Soares, JC, Soriano-Mas, C, Stein, DJ, Strike, LT, Toro, R, Turner, JA, Tzourio-Mazoyer, N, Uhlmann, A, Hernández, MV, van den Heuvel, OA, van der Meer, D, van Haren, NEM, Veltman, DJ, Venkatasubramanian, G, Vetter, NC, Vuletic, D, Walitza, S, Walter, H, Walton, E, Wang, Z, Wardlaw, J, Wen, W, Westlye, LT, Whelan, R, Wittfeld, K, Wolfers, T, Wright, MJ, Xu, J, Xu, X, Yun, J-Y, Zhao, J, Franke, B, Thompson, PM, Glahn, DC, Mazoyer, B, Fisher, SE, Francks, C, Guadalupe, T, Mathias, SR, vanErp, TGM, Whelan, CD, Zwiers, MP, Abe, Y, Abramovic, L, Agartz, I, Andreassen, OA, Arias-Vásquez, A, Aribisala, BS, Armstrong, NJ, Arolt, V, Artiges, E, Ayesa-Arriola, R, Baboyan, VG, Banaschewski, T, Barker, G, Bastin, ME, Baune, BT, Blangero, J, Bokde, ALW, Boedhoe, PSW, Bose, A, Brem, S, Brodaty, H, Bromberg, U, Brooks, S, Büchel, C, Buitelaar, J, Calhoun, VD, Cannon, DM, Cattrell, A, Cheng, Y, Conrod, PJ, Conzelmann, A, Corvin, A, Crespo-Facorro, B, Crivello, F, Dannlowski, U, de Zubicaray, GI, de Zwarte, SMC, Deary, IJ, Desrivières, S, Doan, NT, Donohoe, G, Dørum, ES, Ehrlich, S, Espeseth, T, Fernández, G, Flor, H, Fouche, J-P, Frouin, V, Fukunaga, M, Gallinat, J, Garavan, H, Gill, M, Suarez, AG, Gowland, P, Grabe, HJ, Grotegerd, D, Gruber, O, Hagenaars, S, Hashimoto, R, Hauser, TU, Heinz, A, Hibar, DP, Hoekstra, PJ, Hoogman, M, Howells, FM, Hu, H, Hulshoff Pol, HE, Huyser, C, Ittermann, B, Jahanshad, N, Jönsson, EG, Jurk, S, Kahn, RS, Kelly, S, Kraemer, B, Kugel, H, Kwon, JS, Lemaitre, H, Lesch, K-P, Lochner, C, Luciano, M, Marquand, AF, Martin, NG, Martínez-Zalacaín, I, Martinot, J-L, Mataix-Cols, D, Mather, K, McDonald, C, McMahon, KL, Medland, SE, Menchón, JM, Morris, DW, Mothersill, O, Maniega, SM, Mwangi, B, Nakamae, T, Nakao, T, Narayanaswaamy, JC, Nees, F, Nordvik, JE, Onnink, AMH, Opel, N, Ophoff, R, Paillère Martinot, M-L, Papadopoulos Orfanos, D, Pauli, P, Paus, T, Poustka, L, Reddy, JY, Renteria, ME, Roiz-Santiáñez, R, Roos, A, Royle, NA, Sachdev, P, Sánchez-Juan, P, Schmaal, L, Schumann, G, Shumskaya, E, Smolka, MN, Soares, JC, Soriano-Mas, C, Stein, DJ, Strike, LT, Toro, R, Turner, JA, Tzourio-Mazoyer, N, Uhlmann, A, Hernández, MV, van den Heuvel, OA, van der Meer, D, van Haren, NEM, Veltman, DJ, Venkatasubramanian, G, Vetter, NC, Vuletic, D, Walitza, S, Walter, H, Walton, E, Wang, Z, Wardlaw, J, Wen, W, Westlye, LT, Whelan, R, Wittfeld, K, Wolfers, T, Wright, MJ, Xu, J, Xu, X, Yun, J-Y, Zhao, J, Franke, B, Thompson, PM, Glahn, DC, Mazoyer, B, Fisher, SE, and Francks, C

Abstract

The two hemispheres of the human brain differ functionally and structurally. Despite over a century of research, the extent to which brain asymmetry is influenced by sex, handedness, age, and genetic factors is still controversial. Here we present the largest ever analysis of subcortical brain asymmetries, in a harmonized multi-site study using meta-analysis methods. Volumetric asymmetry of seven subcortical structures was assessed in 15,847 MRI scans from 52 datasets worldwide. There were sex differences in the asymmetry of the globus pallidus and putamen. Heritability estimates, derived from 1170 subjects belonging to 71 extended pedigrees, revealed that additive genetic factors influenced the asymmetry of these two structures and that of the hippocampus and thalamus. Handedness had no detectable effect on subcortical asymmetries, even in this unprecedented sample size, but the asymmetry of the putamen varied with age. Genetic drivers of asymmetry in the hippocampus, thalamus and basal ganglia may affect variability in human cognition, including susceptibility to psychiatric disorders.

Published
2017

45. A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders

Author

Marschik, PB, Pokorny, FB, Peharz, R, Zhang, D, O'Muircheartaigh, J, Roeyers, H, Bolte, S, Spittle, AJ, Urlesberger, B, Schuller, B, Poustka, L, Ozonoff, S, Pernkopf, F, Pock, T, Tammimies, K, Enzinger, C, Krieber, M, Tomantschger, I, Bartl-Pokorny, KD, Sigafoos, J, Roche, L, Esposito, G, Gugatschka, M, Nielsen-Saines, K, Einspieler, C, Kaufmann, WE, Marschik, PB, Pokorny, FB, Peharz, R, Zhang, D, O'Muircheartaigh, J, Roeyers, H, Bolte, S, Spittle, AJ, Urlesberger, B, Schuller, B, Poustka, L, Ozonoff, S, Pernkopf, F, Pock, T, Tammimies, K, Enzinger, C, Krieber, M, Tomantschger, I, Bartl-Pokorny, KD, Sigafoos, J, Roche, L, Esposito, G, Gugatschka, M, Nielsen-Saines, K, Einspieler, C, and Kaufmann, WE

Abstract

PURPOSE OF REVIEW: Substantial research exists focusing on the various aspects and domains of early human development. However, there is a clear blind spot in early postnatal development when dealing with neurodevelopmental disorders, especially those that manifest themselves clinically only in late infancy or even in childhood. RECENT FINDINGS: This early developmental period may represent an important timeframe to study these disorders but has historically received far less research attention. We believe that only a comprehensive interdisciplinary approach will enable us to detect and delineate specific parameters for specific neurodevelopmental disorders at a very early age to improve early detection/diagnosis, enable prospective studies and eventually facilitate randomised trials of early intervention. In this article, we propose a dynamic framework for characterising neurofunctional biomarkers associated with specific disorders in the development of infants and children. We have named this automated detection 'Fingerprint Model', suggesting one possible approach to accurately and early identify neurodevelopmental disorders.

Published
2017

46. A Novel Way to Measure and Predict Development: A Heuristic Approach to Facilitate the Early Detection of Neurodevelopmental Disorders

Author

Marschik, P., Pokorny, F., Peharz, R., Zhang, D., O Muircheartaigh, J., Roeyers, H., Bolte, Sven, Spittle, A., Urlesberger, B., Schuller, B., Poustka, L., Ozonoff, S., Pernkopf, F., Pock, T., Tammimies, K., Enzinger, C., Krieber, M., Tomantschger, I., Bartl-Pokorny, K., Sigafoos, J., Roche, L., Esposito, G., Gugatschka, M., Nielsen-Saines, K., Einspieler, C., Kaufmann, W., Marschik, P., Pokorny, F., Peharz, R., Zhang, D., O Muircheartaigh, J., Roeyers, H., Bolte, Sven, Spittle, A., Urlesberger, B., Schuller, B., Poustka, L., Ozonoff, S., Pernkopf, F., Pock, T., Tammimies, K., Enzinger, C., Krieber, M., Tomantschger, I., Bartl-Pokorny, K., Sigafoos, J., Roche, L., Esposito, G., Gugatschka, M., Nielsen-Saines, K., Einspieler, C., and Kaufmann, W.

Abstract

© 2017, The Author(s). Purpose of Review: Substantial research exists focusing on the various aspects and domains of early human development. However, there is a clear blind spot in early postnatal development when dealing with neurodevelopmental disorders, especially those that manifest themselves clinically only in late infancy or even in childhood. Recent Findings: This early developmental period may represent an important timeframe to study these disorders but has historically received far less research attention. We believe that only a comprehensive interdisciplinary approach will enable us to detect and delineate specific parameters for specific neurodevelopmental disorders at a very early age to improve early detection/diagnosis, enable prospective studies and eventually facilitate randomised trials of early intervention. Summary: In this article, we propose a dynamic framework for characterising neurofunctional biomarkers associated with specific disorders in the development of infants and children. We have named this automated detection ‘Fingerprint Model’, suggesting one possible approach to accurately and early identify neurodevelopmental disorders.

Published
2017

48. Identification of common variants associated with human hippocampal and intracranial volumes

Author

Stein, Jason L, Medland, Sarah E, Bernard, Manon, Nauck, Matthias, Nöthen, Markus M., Olvera, Rene L, Pandolfo, Massimo, Pike, G Bruce, Puls, Ralf, Reinvang, Ivar, Rentería, Miguel E, Rietschel, Marcella, Roffman, Joshua L, Brown, Andrew A, Royle, Natalie A, Rujescu, Dan, Savitz, Jonathan, Schnack, Hugo G, Schnell, Knut, Seiferth, Nina, Smith, Colin, Steen, Vidar M, Valdés Hernández, Maria C, Van den Heuvel, Martijn, Cannon, Dara M, van der Wee, Nic J, Van Haren, Neeltje E M, Veltman, Joris A, Völzke, Henry, Walker, Robert, Westlye, Lars T, Whelan, Christopher D, Agartz, Ingrid, Boomsma, Dorret I, Cavalleri, Gianpiero L, Chakravarty, M Mallar, Dale, Anders M, Djurovic, Srdjan, Drevets, Wayne C, Hagoort, Peter, Hall, Jeremy, Heinz, Andreas, Jack, Clifford R, Foroud, Tatiana M, Le Hellard, Stephanie, Macciardi, Fabio, Christoforou, Andrea, Montgomery, Grant W, Poline, Jean Baptiste, Porteous, David J, Sisodiya, Sanjay M, Starr, John M, Sussmann, Jessika, Toga, Arthur W, Veltman, Dick J, Walter, Henrik, Weiner, Michael W, Domin, Martin, Initiative, Alzheimer's Disease Neuroimaging, Consortium, EPIGEN, Consortium, IMAGEN, Group, Saguenay Youth Study, Bis, Joshua C, Ikram, M Arfan, Smith, Albert V, Gudnason, Vilmundur, Tzourio, Christophe, Vernooij, Meike W, Grimm, Oliver, Launer, Lenore J, DeCarli, Charles, Seshadri, Sudha, Consortium, Cohorts for Heart and Aging Research in Genomic Epidemiology, Andreassen, Ole A, Apostolova, Liana G, Bastin, Mark E, Blangero, John, Brunner, Han G, Buckner, Randy L, Hollinshead, Marisa, Cichon, Sven, Coppola, Giovanni, de Zubicaray, Greig I, Deary, Ian J, Donohoe, Gary, de Geus, Eco J C, Espeseth, Thomas, Fernández, Guillén, Glahn, David C, Grabe, Hans J, Holmes, Avram J, Hardy, John, Hulshoff Pol, Hilleke E, Jenkinson, Mark, Kahn, René S, McDonald, Colm, McIntosh, Andrew M, McMahon, Francis J, McMahon, Katie L, Meyer-Lindenberg, Andreas, Morris, Derek W, Homuth, Georg, Müller-Myhsok, Bertram, Nichols, Thomas E, Ophoff, Roel A, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W, Potkin, Steven G, Sämann, Philipp G, Saykin, Andrew J, Schumann, Gunter, Vasquez, Alejandro Arias, Hottenga, Jouke-Jan, Smoller, Jordan W, Wardlaw, Joanna M, Weale, Michael E, Martin, Nicholas G, Franke, Barbara, Wright, Margaret J, Thompson, Paul M, Consortium, Enhancing Neuro Imaging Genetics through Meta-Analysis, Weiner, Michael, Aisen, Paul, Langan, Camilla, Petersen, Ronald, Jagust, William, Trojanowki, John Q, Beckett, Laurel, Green, Robert C, Morris, John, Liu, Enchi, Lopez, Lorna M, Montine, Tom, Gamst, Anthony, Thomas, Ronald G, Donohue, Michael, Walter, Sarah, Gessert, Devon, Sather, Tamie, Hansell, Narelle K, Harvey, Danielle, Kornak, John, Dale, Anders, Bernstein, Matthew, Felmlee, Joel, Fox, Nick, Hwang, Kristy S, Thompson, Paul, Schuff, Norbert, Alexander, Gene, Bandy, Dan, Koeppe, Robert A, Foster, Norm, Reiman, Eric M, Chen, Kewei, Mathis, Chet, Kim, Sungeun, Cairns, Nigel J, Taylor-Reinwald, Lisa, Trojanowki, J. Q., Shaw, Les, Lee, Virginia M Y, Korecka, Magdalena, Crawford, Karen, Neu, Scott, Laje, Gonzalo, Potkin, Steven, Shen, Li, Kachaturian, Zaven, Frank, Richard, Snyder, Peter J, Molchan, Susan, Kaye, Jeffrey, Quinn, Joseph, Lee, Phil H, Lind, Betty, Dolen, Sara, Schneider, Lon S, Pawluczyk, Sonia, Spann, Bryan M, Brewer, James, Vanderswag, Helen, Heidebrink, Judith L, Lord, Joanne L, Liu, Xinmin, Johnson, Kris, Doody, Rachelle S, Villanueva-Meyer, Javier, Chowdhury, Munir, Stern, Yaakov, Honig, Lawrence S, Bell, Karen L, Morris, John C, Ances, Beau, Carroll, Maria, Loth, Eva, Leon, Sue, Mintun, Mark A, Schneider, Stacy, Marson, Daniel, Griffith, Randall, Clark, David, Grossman, Hillel, Mitsis, Effie, Romirowsky, Aliza, deToledo-Morrell, Leyla, Hibar, Derrek P, Lourdusamy, Anbarasu, Shah, Raj C, Duara, Ranjan, Varon, Daniel, Roberts, Peggy, Albert, Marilyn, Onyike, Chiadi, Kielb, Stephanie, Rusinek, Henry, de Leon, Mony J, Glodzik, Lidia, Mattingsdal, Morten, De Santi, Susan, Doraiswamy, P Murali, Petrella, Jeffrey R, Coleman, R Edward, Arnold, Steven E, Karlawish, Jason H, Wolk, David, Smith, Charles D, Jicha, Greg, Hardy, Peter, Mohnke, Sebastian, Lopez, Oscar L, Oakley, MaryAnn, Simpson, Donna M, Porsteinsson, Anton P, Goldstein, Bonnie S, Martin, Kim, Makino, Kelly M, Ismail, M Saleem, Mulnard, Ruth A, Thai, Gaby, Maniega, Susana Muñoz, Mc-Adams-Ortiz, Catherine, Womack, Kyle, Mathews, Dana, Quiceno, Mary, Diaz-Arrastia, Ramon, King, Richard, Weiner, Myron, Martin-Cook, Kristen, DeVous, Michael, Levey, Allan I, Nho, Kwangsik, Lah, James J, Cellar, Janet S, Burns, Jeffrey M, Anderson, Heather S, Swerdlow, Russell H, Apostolova, Liana, Lu, Po H, Bartzokis, George, Silverman, Daniel H S, Graff-Radford, Neill R, Nugent, Allison C, Parfitt, Francine, Johnson, Heather, Farlow, Martin R, Hake, Ann Marie, Matthews, Brandy R, Herring, Scott, van Dyck, Christopher H, Carson, Richard E, MacAvoy, Martha G, Chertkow, Howard, O'Brien, Carol, Bergman, Howard, Hosei, Chris, Black, Sandra, Stefanovic, Bojana, Caldwell, Curtis, Hsiung, Ging-Yuek Robin, Feldman, Howard, Mudge, Benita, Assaly, Michele, Kertesz, Andrew, Papmeyer, Martina, Rogers, John, Trost, Dick, Bernick, Charles, Munic, Donna, Kerwin, Diana, Mesulam, Marek-Marsel, Lipowski, Kristina, Wu, Chuang-Kuo, Johnson, Nancy, Sadowsky, Carl, Pütz, Benno, Martinez, Walter, Villena, Teresa, Turner, Raymond Scott, Johnson, Kathleen, Reynolds, Brigid, Sperling, Reisa A, Johnson, Keith A, Marshall, Gad, Frey, Meghan, Yesavage, Jerome, Ramasamy, Adaikalavan, Taylor, Joy L, Lane, Barton, Rosen, Allyson, Tinklenberg, Jared, Sabbagh, Marwan, Belden, Christine, Jacobson, Sandra, Kowall, Neil, Killiany, Ronald, Budson, Andrew E, Senstad, Rudy E, Rasmussen, Jerod, Norbash, Alexander, Johnson, Patricia Lynn, Obisesan, Thomas O, Wolday, Saba, Bwayo, Salome K, Lerner, Alan, Hudson, Leon, Ogrocki, Paula, Fletcher, Evan, Carmichael, Owen, Rijpkema, Mark, Olichney, John, Kittur, Smita, Borrie, Michael, Lee, T-Y, Bartha, Rob, Johnson, Sterling, Asthana, Sanjay, Carlsson, Cynthia M, Risacher, Shannon L, Preda, Adrian, Nguyen, Dana, Tariot, Pierre, Fleisher, Adam, Reeder, Stephanie, Bates, Vernice, Capote, Horacio, Rainka, Michelle, Scharre, Douglas W, Kataki, Maria, Roddey, J Cooper, Zimmerman, Earl A, Celmins, Dzintra, Brown, Alice D, Pearlson, Godfrey D, Blank, Karen, Anderson, Karen, Santulli, Robert B, Schwartz, Eben S, Sink, Kaycee M, Rose, Emma J, Williamson, Jeff D, Garg, Pradeep, Watkins, Franklin, Ott, Brian R, Querfurth, Henry, Tremont, Geoffrey, Salloway, Stephen, Malloy, Paul, Correia, Stephen, Rosen, Howard J, Ryten, Mina, Miller, Bruce L, Mintzer, Jacobo, Longmire, Crystal Flynn, Spicer, Kenneth, Finger, Elizabeth, Rachinsky, Irina, Drost, Dick, Cavalleri, Gianpiero, Alhusaini, Saud, Delanty, Norman, Whelan, Christopher, Sisodiya, Sanjay, Kasperaviciute, Dalia, Matarin, Mar, Depondt, Chantal, Goldstein, David B, Heinzen, Erin L, Shianna, Kevin, Sprooten, Emma, Radtke, Rodney, Ottmann, Ruth, Sergievsky, G. H., Schumann, G., Conrod, P., Reed, L., Barker, G., Williams, S., Loth, E., Struve, M., Strengman, Eric, Lourdusamy, A., Cattrell, A., Nymberg, C., Topper, L., Smith, L., Havatzias, S., Stueber, K., Mallik, C., Stacey, D., Wong, C Peng, Teumer, Alexander, Werts, H., Andrew, C., Desrivieres, S., Heinz, A., Gallinat, J., Häke, I., Ivanov, N., Klär, A., Reuter, J., Winkler, Anderson M, Trabzuni, Daniah, Palafox, C., Hohmann, C., Schilling, C., Lüdemann, K., Romanowski, A., Ströhle, A., Wolff, E., Rapp, M., Ittermann, B., Brühl, R., Turner, Jessica, Ihlenfeld, A., Walaszek, B., Schubert, F., Garavan, H., Connolly, C., Jones, J., Lalor, E., McCabe, E., Ní Shiothcháin, A., Whelan, R., van Eijk, Kristel, Spanagel, R., Leonardi-Essmann, F., Sommer, W., Flor, H., Vollstaedt-Klein, S., Nees, F., Banaschewski, T., Poustka, L., Steiner, S., Mann, K., van Erp, Theo G M, Buehler, M., Rietschel, M., Stolzenburg, E., Schmal, C., Schirmbeck, F., Paus, T., Gowland, P., Heym, N., Lawrence, C., Newman, C., van Tol, Marie-Jose, Pausova, Z., Smolka, M., Huebner, T., Ripke, S., Mennigen, E., Muller, K., Ziesch, V., Büchel, C., Bromberg, U., Fadai, T., Wittfeld, Katharina, Lueken, L., Yacubian, J., Finsterbusch, J., Martinot, J. L., Artiges, E., Bordas, N., de Bournonville, S., Bricaud, Z., Gollier Briand, F., Lemaitre, H., Wolf, Christiane, Massicotte, J., Miranda, R., Paillère Martinot, M. L., Penttilä, J., Poline, J. B., Barbot, A., Schwartz, Y., Lalanne, C., Frouin, V., Thyreau, B., Woudstra, Saskia, Dalley, J., Mar, A., Robbins, T., Subramaniam, N., Theobald, D., Richmond, N., de Rover, M., Molander, A., Jordan, E., Robinson, E., Aleman, Andre, Hipolata, L., Moreno, M., Arroyo, M., Stephens, D., Ripley, T., Crombag, H., Pena, Y., Lathrop, M., Zelenika, D., Heath, S., Lanzerath, D., Heinrichs, B., Spranger, T., Fuchs, B., Speiser, C., Resch, F., Haffner, J., Parzer, P., Brunner, R., Klaassen, A., Toro, Roberto, Almasy, Laura, Klaassen, I., Constant, P., Mignon, X., Thomsen, T., Zysset, S., Vestboe, A., Ireland, J., Rogers, J., Binder, Elisabeth B, Chakravarty, Mallar, Smith, Albert Vernon, van der Lijn, Fedde, Crivello, Fabrice, Fornage, Myriam, Shulman, Joshua M, Brohawn, David G, Schmidt, Helena, Srikanth, Velandai, Schuur, Maaike, Yu, Lei, Choi, Seung-Hoan, Sigurdsson, Sigurdur, Verhaaren, Benjamin F J, DeStefano, Anita L, Lambert, Jean-Charles, Cantor, Rita M, Struchalin, Maksim, Stankovich, Jim, Ibrahim-Verbaas, Carla A, Fleischman, Debra, Zijdenbos, Alex, den Heijer, Tom, Mazoyer, Bernard, Coker, Laura H, Enzinger, Christian, Danoy, Patrick, Carless, Melanie A, Amin, Najaf, Arfanakis, Konstantinos, van Buchem, Mark A, de Bruijn, Renée F A G, Beiser, Alexa, Dufouil, Carole, Huang, Juebin, Cavalieri, Margherita, Thomson, Russell, Niessen, Wiro J, Corvin, Aiden, Chibnik, Lori B, Gislason, Gauti K, Hofman, Albert, Pikula, Aleksandra, Amouyel, Philippe, Freeman, Kevin B, Phan, Thanh G, Oostra, Ben A, Nalls, Michael A, Uitterlinden, Andre G, Czisch, Michael, Au, Rhoda, Elbaz, Alexis, Beare, Richard J, van Swieten, John C, Lopez, Oscar, Harris, Tamara B, Chouraki, Vincent, Breteler, Monique M B, De Jager, Philip L, Becker, James T, Curran, Joanne E, Knopman, David, Fazekas, Franz, Wolf, Philip A, van der Lugt, Aad, Longstreth, W. T., Brown, Mathew A, Bennett, David A, van Duijn, Cornelia M, Davies, Gail, Mosley, Thomas H, Schmidt, Reinhold, de Almeida, Marcio A A, Appel, Katja, Duggirala, Ravi, Dyer, Thomas D, Erk, Susanne, Fagerness, Jesen, Fox, Peter T, Freimer, Nelson B, Gill, Michael, Göring, Harald H H, Bartecek, Richard, Hagler, Donald J, Hoehn, David, Holsboer, Florian, Hoogman, Martine, Hosten, Norbert, Jahanshad, Neda, Johnson, Matthew P, Kent, Jack W, Kochunov, Peter, Bergmann, Ørjan, Lancaster, Jack L, Lawrie, Stephen M, Liewald, David C, Mandl, René, Mattheisen, Manuel, Meisenzahl, Eva, Melle, Ingrid, Moses, Eric K, Mühleisen, Thomas W, David Geffen School of Medicine [Los Angeles], University of California [Los Angeles] (UCLA), University of California-University of California, Queensland Institute of Medical Research, Radboud University Medical Center [Nijmegen], Yale University School of Medicine, Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Universität Greifswald - University of Greifswald, Universität Heidelberg [Heidelberg], University Medical Center [Utrecht], University of Oslo (UiO), University of Toronto, National University of Ireland [Galway] (NUI Galway), Montreal Neurological Institute and Hospital, McGill University = Université McGill [Montréal, Canada], University of Bergen (UiB), Harvard University [Cambridge], VU University Amsterdam, University of Edinburgh, Structure et Réactivité des Systèmes Moléculaires Complexes (SRSMC), Institut de Chimie du CNRS (INC)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], National Institutes of Health [Bethesda] (NIH), Department of Forensic and Neurodevelopmental Sciences, King‘s College London, Institute of Psychiatry, Psychology & Neuroscience, King's College London, Georgia State University, University System of Georgia (USG), Department of Psychiatry and Human Behavior [Irvine], University of California [Irvine] (UCI), Leiden University Medical Center (LUMC), Dundee Technopole, CXR Biosciences Ltd, University of Groningen [Groningen], Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland (RCSI), Department of Genetics, Southwest Foundation for Biomedical Research, Bijvoet Center of Biomolecular Research [Utrecht], Utrecht University [Utrecht], Neurology Division, Beaumont Hospital, Dublin 9, Ireland, Beaumont Hospital, The University of Texas Health Science Center at Houston (UTHealth), Center for Neurobehavioral Genetics, Max Planck Institute of Psychiatry, Max-Planck-Gesellschaft, Department of Computer Science, Durham University, Laboratoire des symbioses tropicales et méditerranéennes (UMR LSTM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Université Montpellier 1 (UM1)-Institut de Recherche pour le Développement (IRD)-Institut National de la Recherche Agronomique (INRA)-Université Montpellier 2 - Sciences et Techniques (UM2)-Université de Montpellier (UM)-Institut national d’études supérieures agronomiques de Montpellier (Montpellier SupAgro), Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], University of California, Institute of Neurology [London], University College of London [London] (UCL), University of California [San Francisco] (UCSF), Department of Medicine, University of Washington [Seattle], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Centre Émile Durkheim (CED), Sciences Po Bordeaux - Institut d'études politiques de Bordeaux (IEP Bordeaux)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Salermo, Università degli Studi di Salerno (UNISA), School of Psychology, University of Queensland, University of Queensland [Brisbane], Hartford Hospital, Lancaster University, Centre for Advanced Imaging, McConnell Brain Imaging Centre (MNI), McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Stanley Center for Psychiatric Research, Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Faculteit Medische Wetenschappen/UMCG, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Perceptual and Cognitive Neuroscience (PCN), Biological Psychology, Neuroscience Campus Amsterdam - Brain Imaging, EMGO+ - Mental Health, EPIGEN Consortium, IMAGENConsortium, Saguenay Youth Study Group, the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium, Psychiatry, NCA - Brain Imaging, EMGO - Mental health, Vrije universiteit = Free university of Amsterdam [Amsterdam] (VU), Virology, Epidemiology, Clinical Chemistry, Erasmus MC other, Radiology & Nuclear Medicine, University of California (UC)-University of California (UC), Yale School of Medicine [New Haven, Connecticut] (YSM), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Universität Heidelberg [Heidelberg] = Heidelberg University, Harvard University, Vrije Universiteit Amsterdam [Amsterdam] (VU), University of California [Irvine] (UC Irvine), Universiteit Leiden, University of California (UC), University of California [San Francisco] (UC San Francisco), Università degli Studi di Salerno = University of Salerno (UNISA), University of Iceland [Reykjavik], McGill University, University of Bergen (UIB), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Bijvoet Center of Biomolecular Research, Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, UMR5116, Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), and McGill University-McGill University

Subjects
Netherlands Twin Register (NTR), Pathology, 110 012 Social cognition of verbal communication, [SDV]Life Sciences [q-bio], Hippocampus, Genome-wide association study, DCN PAC - Perception action and control, Hippocampal formation, physiopathology [Brain], Bioinformatics, 0302 clinical medicine, 130 000 Cognitive Neurology & Memory, TEMPORAL-LOBE EPILEPSY, 110 014 Public activities, Renal disorder [IGMD 9], 0303 health sciences, medicine.diagnostic_test, Translational research Immune Regulation [ONCOL 3], Brain, Human brain, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], ALZHEIMERS-DISEASE, medicine.anatomical_structure, Brain size, genetics [Chromosomes, Human, Pair 12], genetics [Polymorphism, Single Nucleotide], Biomarker (medicine), NA+/H+ EXCHANGER, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Genetic Markers, medicine.medical_specialty, 110 000 Neurocognition of Language, DCN MP - Plasticity and memory, A neurocomputational model for the Processing of Linguistic Utterances based on the Unification-Space architecture [110 007 PLUS], BRAIN VOLUME, UNIFIED APPROACH, 110 013 Binding and the MUC-model, Neuroimaging, Biology, GENOTYPE IMPUTATION, Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, AUTOMATED SEGMENTATION, Meta-Analysis as Topic, SDG 3 - Good Health and Well-being, ddc:570, FUNCTIONAL IMPLICATIONS, Genetics, medicine, Humans, GENOME-WIDE ASSOCIATION, 030304 developmental biology, Chromosomes, Human, Pair 12, Magnetic resonance imaging, Genetic Loci, physiopathology [Hippocampus], 110 009 The human brain and Chinese prosody, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], HUMAN HEIGHT, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Contains fulltext : 108202.pdf (Publisher’s version ) (Closed access) Identifying genetic variants influencing human brain structures may reveal new biological mechanisms underlying cognition and neuropsychiatric illness. The volume of the hippocampus is a biomarker of incipient Alzheimer's disease and is reduced in schizophrenia, major depression and mesial temporal lobe epilepsy. Whereas many brain imaging phenotypes are highly heritable, identifying and replicating genetic influences has been difficult, as small effects and the high costs of magnetic resonance imaging (MRI) have led to underpowered studies. Here we report genome-wide association meta-analyses and replication for mean bilateral hippocampal, total brain and intracranial volumes from a large multinational consortium. The intergenic variant rs7294919 was associated with hippocampal volume (12q24.22; N = 21,151; P = 6.70 x 10(-16)) and the expression levels of the positional candidate gene TESC in brain tissue. Additionally, rs10784502, located within HMGA2, was associated with intracranial volume (12q14.3; N = 15,782; P = 1.12 x 10(-12)). We also identified a suggestive association with total brain volume at rs10494373 within DDR2 (1q23.3; N = 6,500; P = 5.81 x 10(-7)). 01 mei 2012

Published
2012

49. Correlated gene expression supports synchronous activity in brain networks

Author

Richiardi, J., Altmann, A., Milazzo, A.-C., Chang, C., Chakravarty, M. M., Banaschewski, T., Barker, G. J., Bokde, A. L. W., Bromberg, U., Buchel, C., Conrod, P., Fauth-Buhler, M., Flor, H., Frouin, V., Gallinat, J., Garavan, H., Gowland, P., Heinz, A., Lemaitre, H., Mann, K. F., Martinot, J.-L., Nees, F., Paus, T., Pausova, Z., Rietschel, M., Robbins, T. W., Smolka, M. N., Spanagel, R., Strohle, A., Schumann, G., Hawrylycz, M., Poline, J.-B., Greicius, M. D., Albrecht, L., Andrew, C., Arroyo, M., Artiges, E., Aydin, S., Bach, C., Barbot, A., Barker, Gareth, Boddaert, N., Bokde, A., Bricaud, Z., Bruehl, R., Cachia, A., Cattrell, A., Constant, P., Dalley, J., Decideur, B., Desrivieres, S., Fadai, T., Briand, F. G., Heinrichs, B., Heym, N., Hubner, T., Ireland, J., Ittermann, B., Jia, T., Lathrop, M., Lanzerath, D., Lawrence, C., Ludemann, K., Macare, C., Mallik, C., Mangin, J.-F., Mann, K., Martinot, J.- L., Mennigen, E., Mesquita de Carvahlo, F., Mignon, X., Miranda, Ruben, Muller, K., Nymberg, C., Paillere, M.-L., Poustka, L., Rapp, M., Robert, G., Reuter, J., Ripke, S., Robbins, Trevor, Rodehacke, S., Rogers, J., Romanowski, A., Ruggeri, B., Schmal, C., Schmidt, D., Schneider, S., Schumann, M., Schubert, F., Schwartz, Y., Smolka, M., Sommer, W., Speiser, C., Spranger, T., Stedman, A., Steiner, S., Stephens, D., Strache, N., Struve, M., Subramaniam, N., Topper, L., Whelan, R., Williams, S., Yacubian, J., Zilbovicius, M., Wong, C. P., Lubbe, S., Martinez-Medina, L., Fernandes, A., Tahmasebi, A., and IMAGEN consortium

Subjects
Multidisciplinary
Published
2015

50. Autism beyond diagnostic categories: Characterization of autistic phenotypes in schizophrenia

Author

Kästner, A., Begemann, M., Michel, T., Everts, S., Stepniak, B., Bach, C., Poustka, L., Becker, J., Banaschewski, T., Dose, M., and Ehrenreich, H.

Subjects
Male, Adult, Psychometrics, behavioral disciplines and activities, Severity of Illness Index, Sensitivity and Specificity, Young Adult, Surveys and Questionnaires, mental disorders, Schizophrenia/diagnosis, Adults, Humans, Diagnostic Errors, Diagnostics, Empathy quotient, Psychiatric Status Rating Scales, Child Development Disorders, Pervasive/diagnosis, Autism diagnostic observation schedule, Autism spectrum disorders, Middle Aged, Positive and negative syndrome scale, Psychiatry and Mental health, Phenotype, Child Development Disorders, Pervasive, Autism quotient, Case-Control Studies, Schizophrenia, Female, Empathy, Research Article
Abstract

Background Behavioral phenotypical continua from health to disease suggest common underlying mechanisms with quantitative rather than qualitative differences. Until recently, autism spectrum disorders and schizophrenia were considered distinct nosologic entities. However, emerging evidence contributes to the blurring of symptomatic and genetic boundaries between these conditions. The present study aimed at quantifying behavioral phenotypes shared by autism spectrum disorders and schizophrenia to prepare the ground for biological pathway analyses. Methods Specific items of the Positive and Negative Syndrome Scale were employed and summed up to form a dimensional autism severity score (PAUSS). The score was created in a schizophrenia sample (N = 1156) and validated in adult high-functioning autism spectrum disorder (ASD) patients (N = 165). To this end, the Autism Diagnostic Observation Schedule (ADOS), the Autism (AQ) and Empathy Quotient (EQ) self-rating questionnaires were applied back to back with the newly developed PAUSS. Results PAUSS differentiated between ASD, schizophrenia and a disease-control sample and substantially correlated with the Autism Diagnostic Observation Schedule. Patients with ADOS scores ≥12 obtained highest, those with scores

Published
2015

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