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 |
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| Přispěvatelé: | RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9) |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Male
Neurodevelopment Physiology CHILDREN Copy Number Variant Brain mapping Medical and Health Sciences 0302 clinical medicine 2.1 Biological and endogenous factors Aetiology Child Psychiatry Brain Mapping Putamen Mental Disorders Brain MOUSE MODEL Middle Aged Serious Mental Illness Magnetic Resonance Imaging Psychiatry and Mental health medicine.anatomical_structure Mental Health Schizophrenia Major depressive disorder Female BEHAVIOR Adult Psychosis SCHIZOPHRENIA SPECTRUM CORTEX Adolescent DISORDERS Clinical Trials and Supportive Activities Amygdala Article 03 medical and health sciences Young Adult Neuroimaging Clinical Research 22q11.2 Deletion Syndrome medicine DiGeorge Syndrome Humans Bipolar disorder DOSAGE business.industry Psychology and Cognitive Sciences Neurosciences Hypertrophy medicine.disease 030227 psychiatry Brain Disorders Neuroanatomy Psychotic Disorders MORPHOMETRY Case-Control Studies VOLUME Atrophy business 030217 neurology & neurosurgery |
| Zdroj: | 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 |
| ISSN: | 0002-953X |
| Popis: | 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 alterations in 22q11DS, including modulating effects of clinical and genetic heterogeneity, the authors studied a large multicenter neuroimaging cohort from the ENIGMA 22q11.2 Deletion Syndrome Working Group. Methods: Subcortical structures were measured using harmonized protocols for gross volume and subcortical shape morphometry in 533 individualswith 22q11DS and 330matched healthy control subjects (age range, 6-56 years; 49% female). Results: Compared with the control group, the 22q11DS group showed lower intracranial volume (ICV) and thalamus, putamen, hippocampus, and amygdala volumes and greater lateral ventricle, caudate, and accumbens volumes (Cohen's d values, 20.90 to 0.93). Shape analysis revealed complex differences in the 22q11DS group across all structures. The larger A-D deletion was associated with more extensive shape alterations compared with the smaller A-B deletion. Participants with 22q11DS with psychosis showed lower ICV and hippocampus, amygdala, and thalamus volumes (Cohen's d values, 20.91 to 0.53) compared with participants with 22q11DS without psychosis. Shape analysis revealed lower thickness and surface area across subregions of these structures. Compared with subcortical findings from other neuropsychiatric disorders studied by the ENIGMA consortium, significant convergence was observed between participants with 22q11DS with psychosis and participants with schizophrenia, bipolar disorder, major depressive disorder, and obsessive-compulsive disorder. Conclusions: In the largest neuroimaging study of 22q11DS to date, the authors found widespread alterations to subcortical brain structures, which were affected by deletion size and psychotic illness. Findings indicate significant overlap between 22q11DS-associated psychosis, idiopathic schizophrenia, and other severe neuropsychiatric illnesses. |
| Databáze: | OpenAIRE |
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