Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome

Autor: Therese van Amelsvoort, Eva W.C. Chow, Marianne Bernadette van den Bree, Paul M. Thompson, Wendy R. Kates, Jacob A. S. Vorstman, Nancy J. Butcher, Julio E Villalon Reina, Clodagh M. Murphy, Eileen Daly, Ania Fiksinski, Donna M. McDonald-McGinn, Raquel E. Gur, Wanda Fremont, David Edmund Johannes Linden, Daqiang Sun, Courtney A. Durdle, Rachel K. Jonas, Hayley Moss, Kosha Ruparel, Tony J. Simon, Nicolas Crossley, J. Eric Schmitt, David R. Roalf, Michael John Owen, Kevin M. Antshel, Sanne Koops, Linda E. Campbell, Beverly S. Emanuel, Anjanibhargavi Ragothaman, Maria Jalbrzikowski, Amy Lin, Kieran C. Murphy, Maria Gudbrandsen, Anne S. Bassett, Ariana Vajdi, T. Blaine Crowley, Dmitry Isaev, Joanne L. Doherty, Boris A. Gutman, Carrie E. Bearden, Kathryn McCabe, Naomi J. Goodrich-Hunsaker, Fidel Vila-Rodriguez, Laura Pacheco-Hansen, Artemis Zavaliangos-Petropulu, Christopher R.K. Ching, Elaine H. Zackai, Geor Bakker, Jennifer K. Forsyth, Adam C. Cunningham, Gabriela M. Repetto, Leila Kushan, Declan G. Murphy, Michael C. Craig

Publikováno v: American Journal of Psychiatry, 177(7), 589-600. American Psychiatric Publishing, Inc.
The American journal of psychiatry, vol 177, iss 7
Ching, C R K, Gutman, B A, Sun, D, Villalon Reina, J, Ragothaman, A, Isaev, D, Zavaliangos-petropulu, A, Lin, A, Jonas, R K, Kushan, L, Pacheco-hansen, L, Vajdi, A, Forsyth, J K, Jalbrzikowski, M, Bakker, G, Van Amelsvoort, T, Antshel, K M, Fremont, W, Kates, W R, Campbell, L E, Mccabe, K L, Craig, M C, Daly, E, Gudbrandsen, M, Murphy, C M, Murphy, D G, Murphy, K C, Fiksinski, A, Koops, S, Vorstman, J, Crowley, T B, Emanuel, B S, Gur, R E, Mcdonald-mcginn, D M, Roalf, D R, Ruparel, K, Schmitt, J E, Zackai, E H, Durdle, C A, Goodrich-hunsaker, N J, Simon, T J, Bassett, A S, Butcher, N J, Chow, E W C, Vila-rodriguez, F, Cunningham, A, Doherty, J, Linden, D E, Moss, H, Owen, M J, Van Den Bree, M, Crossley, N A, Repetto, G M, Thompson, P M & Bearden, C E 2020, ' Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome : Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness ', American Journal of Psychiatry, vol. 177, no. 7, pp. 589-600 . https://doi.org/10.1176/appi.ajp.2019.19060583
Am J Psychiatry

Objective: 22q11.2 deletion syndrome (22q11DS) is among the strongest known genetic risk factors for schizophrenia. Previous studies have reported variable alterations in subcortical brain structures in 22q11DS. To better characterize subcortical alt

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5952af50f7d053fd79cb45c547512a4a
https://doi.org/10.1176/appi.ajp.2019.19060583

Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size

Autor: Therese van Amelsvoort, Maria Jalbrzikowski, Geor Bakker, Jacob A. S. Vorstman, Amy Lin, Donna M. McDonald-McGinn, Raquel E. Gur, Anne S. Bassett, Courtney A. Durdle, Eileen Daly, David Edmund Johannes Linden, Jennifer K. Forsyth, Daqiang Sun, Fidel Vila-Rodriguez, Kathryn McCabe, Laura Hansen, Leila Kushan, J. Eric Schmitt, Carrie E. Bearden, Xiaoping Qu, Clodagh M. Murphy, Kevin M. Antshel, Michael John Owen, Sanne Koops, Beverly S. Emanuel, Kieran C. Murphy, Hayley Moss, Eva W.C. Chow, Julio E. Villalon-Reina, Wendy R. Kates, Nancy J. Butcher, Kosha Ruparel, Naomi J. Goodrich-Hunsaker, Joanne L. Doherty, Rachel K. Jonas, Maria Gudbrandsen, Marianne Bernadette van den Bree, Ariana Vajdi, Christopher R.K. Ching, Declan G. Murphy, Theo G.M. van Erp, David R. Roalf, Ania Fiksinski, Michael C. Craig, Wanda Fremont, Linda E. Campbell, Tony J. Simon, Adam C. Cunningham, Jessica A. Turner, Paul M. Thompson

Publikováno v: Molecular Psychiatry, 25(8), 1822-1834. Nature Publishing Group
Molecular psychiatry, vol 25, iss 8
Molecular psychiatry
Sun, D, Ching, C R K, Lin, A, Forsyth, J K, Kushan, L, Vajdi, A, Jalbrzikowski, M, Hansen, L, Villalon-reina, J E, Qu, X, Jonas, R K, Van Amelsvoort, T, Bakker, G, Kates, W R, Antshel, K M, Fremont, W, Campbell, L E, Mccabe, K L, Daly, E, Gudbrandsen, M, Murphy, C M, Murphy, D, Craig, M, Vorstman, J, Fiksinski, A, Koops, S, Ruparel, K, Roalf, D R, Gur, R E, Schmitt, J E, Simon, T J, Goodrich-hunsaker, N J, Durdle, C A, Bassett, A S, Chow, E W C, Butcher, N J, Vila-rodriguez, F, Doherty, J, Cunningham, A, Van Den Bree, M B M, Linden, D E J, Moss, H, Owen, M J, Murphy, K C, Mcdonald-mcginn, D M, Emanuel, B, Van Erp, T G M, Turner, J A, Thompson, P M & Bearden, C E 2018, ' Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome : Convergence with idiopathic psychosis and effects of deletion size ', Molecular Psychiatry, vol. 25, no. 8, pp. 1822–1834 . https://doi.org/10.1038/s41380-018-0078-5
Sun, D; Ching, CRK; Lin, A; Forsyth, JK; Kushan, L; Vajdi, A; et al.(2018). Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size. Molecular Psychiatry, 1-13. doi: 10.1038/s41380-018-0078-5. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/26s9n67w

The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea36ffa73074e5892b395c1549bccf6b
https://cris.maastrichtuniversity.nl/en/publications/08f62d42-344a-4c68-a3a8-a4ea1ecf7d47

Baseline connectome modular abnormalities in the childhood phase of a longitudinal study on individuals with chromosome 22q11.2 deletion syndrome

Autor: Lisanne M. Jenkins, Owen T. Carmichael, Aifeng Zhang, Naomi J. Goodrich-Hunsaker, Alex D. Leow, Angus G. Forbes, Kristopher Kalish, Aaron Lee, Tony J. Simon, Courtney A. Durdle, Giorgio Conte, Cynthia M. Schumann, Danielle J Harvey, Kathleen Angkustsiri, Liang Zhan

Publikováno v: Human Brain Mapping. 39:232-248

Occurring in at least 1 in 3,000 live births, chromosome 22q11.2 deletion syndrome (22q11DS) produces a complex phenotype that includes a constellation of medical complications such as congenital cardiac defects, immune deficiency, velopharyngeal dys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f6feed3c2e66d02b0e28af02a07161f8
https://doi.org/10.1002/hbm.23838

53. Highly Psychosis-Prone Adolescents Show Increased Capture by Distractor Stimuli and More Effort to Inhibit Emotional Stimuli Than Typically Developing Controls

Autor: Courtney A. Durdle, Abbie Popa

Background: 22q11.2 deletion syndrome (22q) occurs in ~1 in 2000 live births. Those with 22q can experience impaired attention and executive function, as well as high rates of anxiety (≥56% lifetime prevalence). Critically, those with 22q have a 30

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f60b0b8068cd73e8d739419e38a20a2f
https://europepmc.org/articles/PMC5475529/