Brain Morphological Abnormalities in Children with CDKL5 Deficiency Disorder
Abstract number :
538
Submission category :
5. Neuro Imaging / 5A. Structural Imaging
Year :
2020
Submission ID :
2422879
Source :
www.aesnet.org
Presentation date :
12/6/2020 5:16:48 PM
Published date :
Nov 21, 2020, 02:24 AM
Authors :
Yingying Tang, Epilepsy Center, Cleveland Clinic; Irene Wang - Cleveland Clinic; Shaheera Sarwar - Northeast Ohio Medical University; Joon Yul Choi - Neurological Institute, Cleveland Clinic; Shan Wang - Cleveland Clinic; Xiaoming Zhang - Cleveland Clinic
Rationale:
To quantitatively evaluate the brain MRI morphological abnormalities in patients with cyclin-dependent kinase-like 5 deficiency disorder (CDD) on a group level and longitudinally.
Method:
We performed surface-based MRI analysis on high-resolution T1-weighted images on three CDD patients scanned at age of three years, and compared with 12 age- and gender-matched healthy controls. We further examined the longitudinal morphological changes in one patient with a follow-up of 5 years.
Results:
CDD patients presented significant reductions in total intracranial volume, total gray matter volume (GMV) and subcortical GMV compared to controls. For subcortical regions, significant GMV reductions were seen in the brain stem, bilateral thalamus, bilateral hippocampus, bilateral cerebellum and left amygdala. Although GMV of cortical mantle for either side didn’t show statistical differences overall, significant reduction was detected in bilateral parietal, left occipital and right temporal lobes. Cortical thickness (CTh) exhibited significant decrease in the bilateral occipital, parietal and temporal lobes, while surface area (SA) didn’t show any significant difference. Longitudinal follow-up in one patient presented monotonic downward trend of relative volume in the majority of brain regions. The relative SA appeared to gain age-related growth, whereas the relative CTh exhibited a striking progressive decline over time.
Conclusion:
Quantitative morphology analysis in children with CDD showed global volume loss in the cortex and more notably in the subcortical nuclei, with a progressive trend along with the disease course. CTh is more sensitive to disclose cortical atrophy and disease progression than SA. These findings might link to potential microstructural substrates underlying the pathophysiology of CDD.
Funding:
:This study was supported in part by NIH R01 NS109439 (ZIW, JYC).
Neuro Imaging