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Alternative diffusion anisotropy measures for the investigation of white matter alterations in 22q11.2 deletion syndrome

Brieva, Jorge, Lepore, Natasha, Romero, Eduardo, Cunningham, Adam C., Goodrich-Hunsaker, Naomi J., Simon, Tony J., Schmitt, Eric, Gur, Raquel E., Roalf, David, Ruparel, Kosha, McDonald-McGinn, Donna, Emanuel, Beverly, Craig, Michael, Murphy, Declan, Murphy, Clodaph, Gudbrandsen, Maria, Daly, Eileen, Kates, Wendy R., Bakker, Geor, van Amelsvoort, Therese, Jonas, Rachel, Hansen, Laura, Lin, Amy, Nir, Talia, Sun, Daqiang V., Kothapalli, Deydeep, Ching, Christopher R., Thompson, Paul M., Bearden, Carrie E., Jahanshad, Neda, Moss, Hayley, Owen, Michael ORCID:, Linden, David E., Van Den Bree, Marianne ORCID:, Doherty, Joanne, Durdle, Courtney A., McCabe, Kathryn L., Campbell, Linda E., Fremont, Wanda, Antshel, Kevin M., Jalbrzikowski, Maria, Vajdi, Ariana V., Kushan, Leila V., Forsyth, Jennifer K. and Villalón-Reina, Julio 2018. Alternative diffusion anisotropy measures for the investigation of white matter alterations in 22q11.2 deletion syndrome. Presented at: 14th International Symposium on Medical Information Processing and Analysis,, Mazatlán, Mexico, 24-26 October 2018. Published in: Romero, Eduardo, Lepore, Natasha and Brieva, Jorge eds. 14th International Symposium on Medical Information Processing and Analysis. Proceedings of SPIE , vol.10975 Bellingham, Washington: SPIE, p. 51. 10.1117/12.2513788

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Diffusion MRI (dMRI) is widely used to study the brain’s white matter (WM) microstructure in a range of psychiatric and neurological diseases. As the diffusion tensor model has limitations in brain regions with crossing fibers, novel diffusion MRI reconstruction models may offer more accurate measures of tissue properties, and a better understanding of the brain abnormalities in specific diseases. Here we studied a large sample of 249 participants with 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition associated with high rates of developmental neuropsychiatric disorders, and 224 age-matched healthy controls (HC) (age range: 8-35 years). Participants were scanned with dMRI at eight centers worldwide. Using a meta-analytic approach, we assessed the profile of group differences in four diffusion anisotropy measures to better understand the patterns of WM microstructural abnormalities and evaluate their consistency across alternative measures. When assessed in atlas-defined regions of interest, we found statistically significant differences for all anisotropy measures, all showing a widespread but not always coinciding pattern of effects. The tensor distribution function fractional anisotropy (TDF-FA) showed largest effect sizes all in the same direction (greater anisotropy in 22q11DS than HC). Fractional anisotropy based on the tensor model (FA) showed the second largest effect sizes after TDF-FA; some regions showed higher mean values in 22q11DS, but others lower. Generalized fractional anisotropy (GFA) showed the opposite pattern to TDF-FA with most regions showing lower anisotropy in 22q11DS versus HC. Anisotropic power maps (AP) showed the lowest effect sizes also with a mixed pattern of effects across regions. These results were also consistent across skeleton projection methods, with few differences when projecting anisotropy values from voxels sampled on the FA map or projecting values from voxels sampled from each anisotropy map. This study highlights that different mathematical definitions of anisotropy may lead to different profiles of group differences, even in large, well-powered population studies. Further studies of biophysical models derived from multi-shell dMRI and histological validations may help to understand the sources of these differences. 22q11DS is a promising model to study differences among novel anisotropy/dMRI measures, as group differences are relatively large and there exist animal models suitable for histological validation.

Item Type: Conference or Workshop Item (Paper)
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Publisher: SPIE
ISBN: 9781510626065
ISSN: 1996-756X
Last Modified: 24 Nov 2022 09:52

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