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Grey matter volume and cortical structure in Prader-Willi syndrome compared to typically developing young adults.

Published version
Peer-reviewed

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Authors

Manning, Katherine E 
Tait, Roger 
Holland, Anthony J 

Abstract

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder of genomic imprinting, presenting with a characteristic overeating disorder, mild to moderate intellectual disability, and a variable range of social and behavioral difficulties. Consequently, widespread alterations in neural structure and developmental and maturational trajectory would be expected. To date, there have been few quantitative and systematic studies of brain morphology in PWS, although alterations of volume and of cortical organisation have been reported. This study aimed to investigate, in detail, the structure of grey matter and cortex in the brain in a sample of young adults with PWS in a well-matched case-controlled analysis. 20 young adults with PWS, aged 19-27 years, underwent multiparameter mapping magnetic resonance imaging sequences, from which measures of grey matter volume, cortical thickness and magnetisation transfer saturation, as a proxy measure of myelination, were examined. These variables were investigated in comparison to a control group of 40 typically developing young adults, matched for age and sex. A voxel-based morphometry analysis identified large and widespread bilateral clusters of both increased and decreased grey matter volume in the brain in PWS. In particular, widespread areas of increased volume encompassed parts of the prefrontal cortex, especially medially, the majority of the cingulate cortices, from anterior to posterior aspects, insula cortices, and areas of the parietal and temporal cortices. Increased volume was also reported in the caudate, putamen and thalamus. The most ventromedial prefrontal areas, in contrast, showed reduced volume, as did the parts of the medial temporal lobe, bilateral temporal poles, and a small cluster in the right lateral prefrontal cortex. Analysis of cortical structure revealed that areas of increased volume in the PWS group were largely driven by greater cortical thickness. Conversely, analysis of myelin content using magnetisation transfer saturation indicated that myelination of the cortex was broadly similar in the PWS and control groups, with the exception of highly localised areas, including the insula. The bilateral nature of these abnormalities suggests a systemic biological cause, with possible developmental and maturational mechanisms discussed, and may offer insight into the contribution of imprinted genes to neural development.

Description

Keywords

ACC, anterior cingulate cortex, ANTS, Advanced Normalisation Tools Software, BMI, body mass index, CamBA, Cambridge Brain Analysis software, Cortical thickness, FA, flip angle, GLM, general linear model, GM, grey matter, Genomic imprinting, Grey matter, IQ, intelligence quotient, MPM, multiparameter mapping, MRI, magnetic resonance imaging, MT, magnetisation transfer, Multiparameter mapping, Myelination, NHS, National Health Service, NSPN, NeuroScience in Psychiatry Network, OFC, orbitofrontal cortex, PD, proton density, PFC, prefrontal cortex, PWS, Prader-Willi syndrome, PWSA UK, Prader-Willi Syndrome Association UK, Prader-Willi syndrome, TE, echo time, TIV, total intracranial volume, TR, repetition time, UPD, uniparental disomy, WM, white matter, Adolescent, Adult, Body Mass Index, Brain Mapping, Cerebral Cortex, Female, Gray Matter, Humans, Image Processing, Computer-Assisted, Intelligence Tests, Magnetic Resonance Imaging, Male, Prader-Willi Syndrome, Psychiatric Status Rating Scales, Young Adult

Journal Title

Neuroimage Clin

Conference Name

Journal ISSN

2213-1582
2213-1582

Volume Title

17

Publisher

Elsevier BV
Sponsorship
Health Foundation (543/1163)
Foundation for Prader-Willi Research (unknown)