Patterns of Cortical Folding Associated with Autistic Symptoms in Carriers and Noncarriers of the 22q11.2 Microdeletion. (18th May 2020)

• Record Type: Journal Article
• Authors: Gudbrandsen, Maria; Mann, Caroline; Bletsch, Anke; Daly, Eileen; Murphy, Clodagh M; Stoencheva, Vladimira; Blackmore, Charlotte E; Rogdaki, Maria; Kushan, Leila; Bearden, Carrie E; Murphy, Declan G M; Craig, Michael C; Ecker, Christine
• Is Part Of: Cerebral cortex. Volume 30:Number 10(2020)
• Page Start: 5281
• Page End: 5292
• Publication Date: 2020-05-18
• Subjects: 22q11.2 deletion syndrome -- autism spectrum disorder -- brain anatomy -- cortical folding -- local gyrification index; Cerebral cortex -- Periodicals; Brain -- Periodicals; 612.825
• DOI: 10.1093/cercor/bhaa108
• Languages: English
• ISSNs: 1047-3211

Abstract

Abstract: 22q11.2 deletion syndrome (22q11.2DS) is a genetic condition accompanied by a range of psychiatric manifestations, including autism spectrum disorder (ASD). It remains unknown, however, whether these symptoms are mediated by the same or distinct neural mechanisms as in idiopathic ASD. Here, we examined differences in l GI associated with ASD in 50 individuals with 22q11.2DS ( n = 25 with ASD, n = 25 without ASD) and 81 individuals without 22q11.2DS ( n = 40 with ASD, n = 41 typically developing controls). We initially utilized a factorial design to identify the set of brain regions where l GI is associated with the main effect of 22q11.2DS, ASD, and with the 22q11.2DS-by-ASD interaction term. Subsequently, we employed canonical correlation analysis (CCA) to compare the multivariate association between variability in l GI and the complex clinical phenotype of ASD between 22q11.2DS carriers and noncarriers. Across approaches, we established that even though there is a high degree of clinical similarity across groups, the associated patterns of l GI significantly differed between carriers and noncarriers of the 22q11.2 microdeletion. Our results suggest that ASD symptomatology recruits different neuroanatomical underpinnings across disorders and that 22q11.2DS individuals with ASD represent a neuroanatomically distinct subgroup that differs from 22q11.2DS individuals without ASD and from individuals with idiopathic ASD.