Patterns of Cortical Folding Associated with Autistic Symptoms in Carriers and Noncarriers of the 22q11.2 Microdeletion

TY - JOUR

T1 - Patterns of Cortical Folding Associated with Autistic Symptoms in Carriers and Noncarriers of the 22q11.2 Microdeletion

AU - Gudbrandsen, Maria

AU - Mann, Caroline

AU - Bletsch, Anke

AU - Daly, Eileen

AU - Murphy, Clodagh M.

AU - Stoencheva, Vladimira

AU - Blackmore, Charlotte E.

AU - Rogdaki, Maria

AU - Kushan, Leila

AU - Bearden, Carrie E.

AU - Murphy, Declan G.M.

AU - Craig, Michael C.

AU - Ecker, Christine

PY - 2020/10/1

Y1 - 2020/10/1

N2 - 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 lGI 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 lGI 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 lGI 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 lGI 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.

AB - 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 lGI 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 lGI 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 lGI 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 lGI 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.

KW - 22q11.2 deletion syndrome

KW - autism spectrum disorder

KW - brain anatomy

KW - cortical folding

KW - local gyrification index

UR - http://www.scopus.com/inward/record.url?scp=85090491317&partnerID=8YFLogxK

U2 - 10.1093/cercor/bhaa108

DO - 10.1093/cercor/bhaa108

M3 - Article

C2 - 32420595

AN - SCOPUS:85090491317

SN - 1047-3211

VL - 30

SP - 5281

EP - 5292

JO - Cerebral cortex (New York, N.Y. : 1991)

JF - Cerebral cortex (New York, N.Y. : 1991)

IS - 10

ER -