Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness

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dc.contributor.authorChing, Christopher R.K.
dc.contributor.authorGutman, Boris A.
dc.contributor.authorSun, Daqiang
dc.contributor.authorVillalon Reina, Julio
dc.contributor.authorRagothaman, Anjanibhargavi
dc.contributor.authorIsaev, Dmitry
dc.contributor.authorZavaliangos-Petropulu, Artemis
dc.contributor.authorLin, Amy
dc.contributor.authorJonas, Rachel K.
dc.contributor.authorKushan, Leila
dc.contributor.authorPacheco-Hansen, Laura
dc.contributor.authorVajdi, Ariana
dc.contributor.authorForsyth, Jennifer K.
dc.contributor.authorJalbrzikowski, Maria
dc.contributor.authorBakker, Geor
dc.contributor.authorAmelsvoort, Therese van
dc.contributor.authorAntshel, Kevin M.
dc.contributor.authorFremont, Wanda
dc.contributor.authorKates, Wendy R.
dc.contributor.authorCampbell, Linda E.
dc.contributor.authorMcCabe, Kathryn L.
dc.contributor.authorCraig, Michael C.
dc.contributor.authorDaly, Eileen
dc.contributor.authorGudbrandsen, Maria
dc.contributor.authorMurphy, Clodagh M.
dc.contributor.authorMurphy, Declan G.
dc.contributor.authorMurphy, Kieran C.
dc.contributor.authorFiksinski, Ania
dc.contributor.authorKoops, Sanne
dc.contributor.authorVorstman, Jacob
dc.contributor.authorCrowley, Blaine
dc.contributor.authorEmanuel, Beverly S.
dc.contributor.authorGur, Raquel E.
dc.contributor.authorMcDonald-McGinn, Donna M.
dc.contributor.authorRoalf, David R.
dc.contributor.authorRuparel, Kosha
dc.contributor.authorSchmitt, J. Eric
dc.contributor.authorZackaile, Elaine H.
dc.contributor.authorDurdle, Courtney A.
dc.contributor.authorGoodrich-Hunsaker, Naomi J.
dc.contributor.authorSimon, Tony J.
dc.contributor.authorBassett, Anne S.
dc.contributor.authorButcher, Nancy J.
dc.contributor.authorChow, Eva W.C.
dc.contributor.authorVila-Rodriguez, Fidel
dc.contributor.authorCunningham, Adam
dc.contributor.authorDoherty, Joanne
dc.contributor.authorLinden, David E.
dc.contributor.authorMoss, Hayley
dc.contributor.authorOwen, Michael J.
dc.contributor.authorBree, Marianne van den
dc.contributor.authorCrossley, Nicolas A.
dc.contributor.authorRepetto, Gabriela
dc.contributor.authorThompson, Paul M.
dc.contributor.authorBearden, Carrie E.
dc.date.accessioned2021-12-28T15:44:15Z
dc.date.available2021-12-28T15:44:15Z
dc.date.issued2020
dc.description.abstractObjective: 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, 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.es
dc.identifier.citationChing CRK, Gutman BA, Sun D, Villalon Reina J, Ragothaman A, Isaev D, Zavaliangos-Petropulu A, Lin A, Jonas RK, Kushan L, Pacheco-Hansen L, Vajdi A, Forsyth JK, Jalbrzikowski M, Bakker G, van Amelsvoort T, Antshel KM, Fremont W, Kates WR, Campbell LE, McCabe KL, Craig MC, Daly E, Gudbrandsen M, Murphy CM, Murphy DG, Murphy KC, Fiksinski A, Koops S, Vorstman J, Crowley TB, Emanuel BS, Gur RE, McDonald-McGinn DM, Roalf DR, Ruparel K, Schmitt JE, Zackai EH, Durdle CA, Goodrich-Hunsaker NJ, Simon TJ, Bassett AS, Butcher NJ, Chow EWC, Vila-Rodriguez F, Cunningham A, Doherty J, Linden DE, Moss H, Owen MJ, van den Bree M, Crossley NA, Repetto GM, Thompson PM, Bearden CE. Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness. Am J Psychiatry. 2020 Jul 1;177(7):589-600. doi: 10.1176/appi.ajp.2019.19060583.es
dc.identifier.urihttps://doi.ogr/10.1176/appi.ajp.2019.19060583es
dc.identifier.urihttp://hdl.handle.net/11447/5297
dc.language.isoenes
dc.subject22q11.2 Deletion Syndromees
dc.subjectCopy Number Variantes
dc.subjectNeuroanatomyes
dc.subjectNeurodevelopmentes
dc.subjectPsychosises
dc.subjectSchizophreniaes
dc.titleMapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illnesses
dc.typeArticlees
dcterms.sourceThe American Journal Psychiatryes

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