Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder.

Title

Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder.

Creator

Tang Y; Wang ZI; Sarwar S; Choi JY; Wang S; Zhang X; Parikh S; Moosa AN; Pestana-Knight E

Publisher

European Journal Of Paediatric Neurology

Date

2021
2021-02-15

Description

BACKGROUND: 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. METHODS: 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 (GM) volume and subcortical GM volume compared to controls. For subcortical regions, significant GM volume reductions were seen in the brain stem, bilateral thalamus, bilateral hippocampus, bilateral cerebellum and left amygdala. Although GM volume of cortical mantle did not show statistical differences overall, significant reduction was detected in bilateral parietal, left occipital and right temporal lobes. Cortical thickness exhibited significant decreases in bilateral occipital, parietal and temporal lobes, while surface area did not show any significant differences. Longitudinal follow-up in one patient revealed a monotonic downward trend of relative volume in the majority of brain regions. The relative surface area appeared to gain age-related growth, whereas the relative cortical thickness exhibited a striking progressive decline over time. CONCLUSIONS: Quantitative morphology analysis in children with CDD showed global volume loss in the cortex and more notably in the subcortical gray matter, with a progressive trend along with the disease course. Cortical thickness is a more sensitive measure to disclose cortical atrophy and disease progression than surface area.

Subject

CDKL5 deficiency disorder (CDD); Children; Epileptic encephalopathy; Magnetic resonance imaging (MRI); Surface-based analysis

Format

journalArticle

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Rights

Article information provided for research and reference use only. All rights are retained by the journal listed under publisher and/or the creator(s).

Pages

46-53

Volume

31

ISSN

1532-2130 1090-3798

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Update Year & Number

March 2021 List

Citation

Tang Y; Wang ZI; Sarwar S; Choi JY; Wang S; Zhang X; Parikh S; Moosa AN; Pestana-Knight E, “Brain morphological abnormalities in children with cyclin-dependent kinase-like 5 deficiency disorder.,” NEOMED Bibliography Database, accessed May 25, 2022, https://neomed.omeka.net/items/show/11607.

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