Longevity in Rett Syndrome: Analysis of the North American Database - 07/03/14

Doi : 10.1016/j.jpeds.2009.07.015

Russell S. Kirby, PhD ^a, Jane B. Lane, BSN ^b, Jerry Childers ^b, Steve A. Skinner, MD ^c, Fran Annese, LMSW ^c, Judy O. Barrish, BSN ^d, Daniel G. Glaze, MD ^d, Patrick MacLeod, MD ^e, Alan K. Percy, MD ^b,^⁎
School of Public Health, University of Alabama at Birmingham, Birmingham, AL
Civitan International Research Center, University of Alabama at Birmingham, Birmingham, AL
Greenwood Genetic Center, Greenwood, SC
Department of Pediatrics, Baylor College of Medicine, Houston, TX
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

Reprint requests: Alan K. Percy, MD, Civitan International Research Center, Room 320E, 1530 3rd Avenue South, Birmingham, AL 35294-0021.

Abstract

Objective

To determine longevity in Rett syndrome (RTT) from a large cohort.

Study design

The North American RTT Database allows the examination of longevity in a large cohort of individuals with RTT from the United States and Canada. This database contains information on 1928 individuals, 85.5% with typical RTT, 13.4% with atypical RTT, and 1.1% with a mutation in the methyl-CpG-binding protein 2 gene (MECP2) but not RTT. Kaplan-Meier analyses were performed to assess longevity.

Results

Earlier decennial cohorts exhibited better survival than recent cohorts, with most participants surviving into middle age. Comparing overall survival in persons with typical RTT and atypical RTT revealed greater mortality in typical RTT across the observed lifespan (P < .0001). Comparing survival in persons with RTT and identified MECP2 mutations and persons with unknown MECP2 status demonstrated greater mortality in the latter group (P < .0001, log-rank test).

Conclusions

This analysis provides strong evidence for significant longevity in RTT and indicates the need for careful planning for long-term care of these women. The disproportionately greater survival seen in earlier time periods and in persons with atypical RTT may be attributed to more severely affected individuals dying before diagnosis in the former and to greater numbers with milder variants (ie, preserved speech and delayed onset) in the latter.

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Mots-clés : IRSA, MECP2, RTT

Plan

Methods

Results

Discussion

Supported by grants from the National Institutes of Health (RR019478) and Mental Retardation Research Center (HD38985), and funds from the International Rett Syndrome Association and Civitan International Research Center. The authors declare no conflicts of interest.