Browsing by Author "Lin, Amy"
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Item Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness(2020) 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; Amelsvoort, Therese van; 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, Blaine; Emanuel, Beverly S.; Gur, Raquel E.; McDonald-McGinn, Donna M.; Roalf, David R.; Ruparel, Kosha; Schmitt, J. Eric; Zackaile, 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.; Bree, Marianne van den; Crossley, Nicolas A.; Repetto, Gabriela; Thompson, Paul M.; Bearden, Carrie E.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, 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.Publication Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome(2024) Repetto, Gabriela; Ge, Ruiyang; Ching, Christopher; Bassett, Anne; Kushan, Leila; Antshe, Kevin; Van Amelsvoort, Therese; Bakker, Geor; Butcher, Nancy; Campbell, Linda; Chow, Eva; Craig, Michael; Crossley, Nicolas; Cunningham, Adam; Daly, Eileen; Doherty, Joanne; Durdle, Courtney; Emanuel, Beverly; Fiksinski, Ania; Forsyth, Jennifer; Fremont, Wanda; Goodrich-Hunsaker, Naomi; Gudbrandsen, Maria; Gur, Raquel; Jalbrzikowski, Maria; Kates, Wendy; Lin, Amy; Linden, David; McCabe, Kathryn; McDonald, Donna; Moss, Hayley; Murphy, Declan; Murphy, Kieran; Owen, Michael; Villalon, Julio; Roalf, David; Ruparel, Kosha; Schmitt, J. Eric; Schuite, Sanne; Angkustsiri, Kathleen22q11.2 deletion syndrome (22q11DS) is the most frequently occurring microdeletion in humans. It is associated with a significant impact on brain structure, including prominent reductions in gray matter volume (GMV), and neuropsychiatric manifestations, including cognitive impairment and psychosis. It is unclear whether GMV alterations in 22q11DS occur according to distinct structural patterns. Then, 783 participants (470 with 22q11DS: 51% females, mean age [SD] 18.2 [9.2]; and 313 typically developing [TD] controls: 46% females, mean age 18.0 [8.6]) from 13 datasets were included in the present study. We segmented structural T1-weighted brain MRI scans and extracted GMV images, which were then utilized in a novel source-based morphometry (SBM) pipeline (SS-Detect) to generate structural brain patterns (SBPs) that capture co-varying GMV. We investigated the impact of the 22q11.2 deletion, deletion size, intelligence quotient, and psychosis on the SBPs. Seventeen GMV-SBPs were derived, which provided spatial patterns of GMV covariance associated with a quantitative metric (i.e., loading score) for analysis. Patterns of topographically widespread differences in GMV covariance, including the cerebellum, discriminated individuals with 22q11DS from healthy controls. The spatial extents of the SBPs that revealed disparities between individuals with 22q11DS and controls were consistent with the findings of the univariate voxel-based morphometry analysis. Larger deletion size was associated with significantly lower GMV in frontal and occipital SBPs; however, history of psychosis did not show a strong relationship with these covariance patterns. 22q11DS is associated with distinct structural abnormalities captured by topographical GMV covariance patterns that include the cerebellum. Findings indicate that structural anomalies in 22q11DS manifest in a nonrandom manner and in distinct covarying anatomical patterns, rather than a diffuse global process. These SBP abnormalities converge with previously reported cortical surface area abnormalities, suggesting disturbances of early neurodevelopment as the most likely underlying mechanism.