• Fiona M Baumer, Jurriaan M Peters, Sean Clancy, Anna K Prohl, Sanjay P Prabhu, Benoit Scherrer, Floor E Jansen, Braun Kees P J KPJ Brain Center Rudolf Magnus, Department of Pediatric Neurology, University Medical Center Utrecht, The Netherlands., Mustafa Sahin, Aymeric Stamm, and Simon K Warfield.
• Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
• Cereb. Cortex. 2018 Oct 1; 28 (10): 3665-3672.

IntroductionNeurological manifestations in Tuberous Sclerosis Complex (TSC) are highly variable. Diffusion tensor imaging (DTI) may reflect the neurological disease burden. We analyzed the association of autism spectrum disorder (ASD), intellectual disability (ID) and epilepsy with callosal DTI metrics in subjects with and without TSC.Methods186 children underwent 3T MRI DTI: 51 with TSC (19 with concurrent ASD), 46 with non-syndromic ASD and 89 healthy controls (HC). Subgroups were based on presence of TSC, ASD, ID, and epilepsy. Density-weighted DTI metrics obtained from tractography of the corpus callosum were fitted using a 2-parameter growth model. We estimated distributions using bootstrapping and calculated half-life and asymptote of the fitted curves.ResultsTSC was associated with a lower callosal fractional anisotropy (FA) than ASD, and ASD with a lower FA than HC. ID, epilepsy and ASD diagnosis were each associated with lower FA values, demonstrating additive effects. In TSC, the largest change in FA was related to a comorbid diagnosis of ASD. Mean diffusivity (MD) showed an inverse relationship to FA. Some subgroups were too small for reliable data fitting.ConclusionsUsing a cross-disorder approach, this study demonstrates cumulative abnormality of callosal white matter diffusion with increasing neurological comorbidity.

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