Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.

ABSTRACT:

Objective

Rett syndrome, CDKL5-deficiency disorder, FOXG1 disorder, and MECP2 duplication disorder are developmental encephalopathies with shared and distinct features. Although they are historically linked, no direct comparison has been performed. The first head-to-head comparison of clinical features in these conditions is presented.

Methods

Comprehensive clinical information was collected from 793 individuals enrolled in the Rett and Rett-Related Disorders Natural History Study. Clinical features including clinical severity, regression, and seizures were cross-sectionally compared between diagnoses to test the hypothesis that these are 4 distinct disorders.

Results

Distinct patterns of clinical severity, seizure onset age, and regression were present. Individuals w

SUBMITTER: Cutri-French C 

PROVIDER: S-EPMC8882337 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature