TY  - JOUR
A1  - Gudbrandsen, Maria
A1  - Daly, Eileen
A1  - Murphy, Clodagh M.
A1  - Blackmore, Charlotte
A1  - Rogdaki, Maria
A1  - Mann, Catrin
A1  - Bletsch, Anke
A1  - Kushan, Leila
A1  - Bearden, Carrie E.
A1  - Murphy, Declan G. M.
A1  - Craig, Michael
A1  - Ecker, Christine
T1  - Brain morphometry in 22q11.2 deletion syndrome: an exploration of differences in cortical thickness, surface area, and their contribution to cortical volume
T2  - Scientific reports
N2  - 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion in humans, with a heterogenous clinical presentation including medical, behavioural and psychiatric conditions. Previous neuroimaging studies examining the neuroanatomical underpinnings of 22q11.2DS show alterations in cortical volume (CV), cortical thickness (CT) and surface area (SA). The aim of this study was to identify (1) the spatially distributed networks of differences in CT and SA in 22q11.2DS compared to controls, (2) their unique and spatial overlap, as well as (3) their relative contribution to observed differences in CV. Structural MRI scans were obtained from 62 individuals with 22q11.2DS and 57 age-and-gender-matched controls (aged 6–31). Using FreeSurfer, we examined differences in vertex-wise estimates of CV, CT and SA at each vertex, and compared the frequencies of vertices with a unique or overlapping difference for each morphometric feature. Our findings indicate that CT and SA make both common and unique contributions to volumetric differences in 22q11.2DS, and in some areas, their strong opposite effects mask differences in CV. By identifying the neuroanatomic variability in 22q11.2DS, and the separate contributions of CT and SA, we can start exploring the shared and distinct mechanisms that mediate neuropsychiatric symptoms across disorders, e.g. 22q11.2DS-related ASD and/or psychosis/schizophrenia.
KW  - Magnetic resonance imaging
KW  - Molecular neuroscience
Y1  - 2020
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/63671
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-636717
SN  - 2045-2322
N1  - This work was supported the National Institute of Mental Health (NIMH) with Grants R01MH085953, R01MH085953-S1 and R21MH116473-01A1 to Prof. C. Bearden. Moreover, Prof. C. Ecker gratefully acknowledges support by grants EC480/1-1 and EC480/2-1 from the German Research Foundation under the Heisenberg Programme. We further acknowledge support of the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 115300 for the project EU-AIMS and No 777394 for the project AIMS-2-TRIALS. This Joint Undertaking receives support from the European Union's Horizon 2020 research and innovation programme and EFPIA and AUTISM SPEAKS, Autistica, SFARI.
N1  - Open Access funding enabled and organized by Projekt DEAL.
VL  - 10.2020
IS  - art. 18845
SP  - 1
EP  - 12
PB  - Macmillan Publishers Limited, part of Springer Nature
CY  - [London]
ER  -