There is variability in the attainment of developmental milestones in the CDKL5 disorder.

ABSTRACT:

Background

Individuals with the CDKL5 disorder have been described as having severely impaired development. A few individuals have been reported having attained more milestones including walking and running. Our aim was to investigate variation in attainment of developmental milestones and associations with underlying genotype.

Methods

Data was sourced from the International CDKL5 Disorder Database, and individuals were included if they had a pathogenic or probably pathogenic CDKL5 mutation and information on early development. Kaplan-Meier time-to-event analyses investigated the occurrence of developmental milestones. Mutations were grouped by their structural/functional consequence, and Cox regression was used to investigate the relationship between genotype and milestone

SUBMITTER: Fehr S 

PROVIDER: S-EPMC4318547 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature