The Changing Face of Survival in Rett Syndrome and MECP2-Related Disorders.

ABSTRACT:

Purpose

Survival in Rett syndrome remains unclear. Although early estimates were grim, more recent data suggest that survival into adulthood is typical. We aimed to define survival in Rett syndrome more clearly and identify risk factors for early death.

Methods

Participants with clinical Rett Syndrome or methyl-CpG-binding protein 2 mutations without clinical RTT were recruited through the Rett Syndrome Natural History study from 2006 to 2015. Clinical details were collected, and survival was determined using the Kaplan-Meier estimator. Risk factors were assessed using Cox proportional hazards models.

Results

Among 1189 valid participants, 51 died (range 3.9-66.6 years) during the 9-year follow-up period. Those who died included 36 (3.9%) classic Rett syndrome females

SUBMITTER: Tarquinio DC 

PROVIDER: S-EPMC4609589 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature