Abstract #1234

Individualised assessment of regional brain volumes in neonates with Down syndrome reveals extreme deviation in white matter and cerebellum.

Abi Fukami - Gartner^1,2, Ana A. Baburamani¹, Ralica Dimitrova^1,3, Prachi A. Patkee¹, Olatz Ojinaga - Alfageme^1,4, Alexandra F. Bonthrone¹, Alena Uus^1,5, Emer Hughes¹, Maria Deprez^1,5, Serena J. Counsell¹, Joseph V. Hajnal^1,5, A. David Edwards^1,2, Jonathan O’Muircheartaigh^1,2, and Mary A. Rutherford^1,2

¹Centre for the Developing Brain, School of Biomedical Engineering and Imaging Sciences, King's College London, London, United Kingdom, ²MRC Centre for Neurodevelopmental Disorders, King's College London, London, United Kingdom, ³Department of Forensic and Neurodevelopmental Science, Sackler Institute for Translational Neurodevelopment, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom, ⁴Centre for Brain and Cognitive Development, Birkbeck, University of London, London, United Kingdom, ⁵Biomedical Engineering Department, School of Biomedical Engineering and Imaging Sciences, King's College London, London, United Kingdom

Synopsis

There are relatively few early neuroimaging studies of Down syndrome (DS), despite being the most common genetic cause of intellectual disability, with characteristics present from birth. The aim of this study was to conduct a group-level analysis of volumetric differences across multiple brain regions in neonates with DS (n = 20) using individual z-scores extracted from robust normative modelling of typically developing neonatal controls (TDC; n = 493). In addition to well-documented cerebellar hypoplasia, here we have identified that neonates with DS have markedly reduced volumes in the cingulate, frontal, insular and occipital WM segments compared to TDC.

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