Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Mapping subcortical brain alterations in 22q11.2 deletion syndrome: effects of seletion size and convergence with idiopathic neuropsychiatric illness

Ching, Christopher R.K., Gutman, Boris A., Sun, Daqiang, Villalon Reina, Julio, Ragothaman, Anjanibhargavi, Isaev, Dmitry, Zavaliangos-Petropulu, Artemis, Lin, Amy, Jonas, Rachel K., Kushan, Leila, Pacheco-Hansen, Laura, Vajdi, Ariana, Forsyth, Jennifer K., Jalbrzikowski, Maria, Bakker, Geor, van Amelsvoort, Therese, Antshel, Kevin M., Fremont, Wanda, Kates, Wendy R., Campbell, Linda E., McCabe, Kathryn L., Craig, Michael C., Daly, Eileen, Gudbrandsen, Maria, Murphy, Clodagh M., Murphy, Declan G., Murphy, Kieran C., Fiksinski, Ania, Koops, Sanne, Vorstman, Jacob, Crowley, T. Blaine, Emanuel, Beverly S., Gur, Raquel E., McDonald-McGinn, Donna M., Roalf, David R., Ruparel, Kosha, Schmitt, J. Eric, Zackai, Elaine H., Durdle, Courtney A., Goodrich-Hunsaker, Naomi J., Simon, Tony J., Bassett, Anne S., Butcher, Nancy J., Chow, Eva W.C., Vila-Rodriguez, Fidel, Cunningham, Adam, Doherty, Joanne, Linden, David E., Moss, Hayley, Owen, Michael J. ORCID:, van den Bree, Marianne ORCID:, Crossley, Nicolas A., Repetto, Gabriela M., Thompson, Paul M. and Bearden, Carrie E. 2020. Mapping subcortical brain alterations in 22q11.2 deletion syndrome: effects of seletion size and convergence with idiopathic neuropsychiatric illness. American Journal of Psychiatry 177 (7) , pp. 589-600. 10.1176/appi.ajp.2019.19060583

Full text not available from this repository.


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 individuals with 22q11DS and 330 matched 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, −0.90 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, −0.91 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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Advanced Research Computing @ Cardiff (ARCCA)
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: American Psychiatric Publishing
ISSN: 0002-953X
Date of First Compliant Deposit: 2 March 2020
Date of Acceptance: 28 October 2019
Last Modified: 26 Nov 2022 12:58

Citation Data

Cited 35 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item