Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder.

ABSTRACT:

Background

CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders. Current treatment is primarily symptom-based and informed by experience in caring for this population.

Methods

We describe medication and non-medication approaches to treatment of epilepsy and additional key neurologic symptoms (sleep disturbances, behavioral issues, movement disorders, and swallowing dysfunction) in a cohort of 177 individuals meeting criteria for CDD, 154 evaluated at 4 CDKL5 Centers of Excellence in the USA and 40 identified through the NIH Natural History Study of Rett and Related Disorders.

Results

The four most frequently prescribe

SUBMITTER: Olson HE 

PROVIDER: S-EPMC8447578 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature