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Am J Med Genet A. 2015 Jul;167(7):1493-500. doi: 10.1002/ajmg.a.37027. Epub 2015 Mar 28.

A national survey of Rett syndrome: age, clinical characteristics, current abilities, and health.

Author information

  • 1Welsh Centre for Learning Disabilities, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.
  • 2Institute of Cancer and Genetics, Institute of Medical Genetics Building, Cardiff University, Cardiff, UK.
  • 3Centre for Educational Development Appraisal and Research, University of Warwick, Coventry, England.
  • 4Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.

Abstract

As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well-chosen contrast group and its relationship to parental well-being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations or large deletions were associated with greater severity. Early regression was also associated with greater severity. All three were associated with lower current abilities. Epilepsy and weight, gastrointestinal and bowel problems were common co-morbidities. Participants with classic RTT had greater health problems than those with atypical RTT. A substantial minority of respondents reported fairly frequent signs of possible pain experienced by their relative with RTT. Overall, the study provides new data on the current abilities and general health of people with RTT and adds to the evidence that the severity of the condition and variation of subsequent disability, albeit generally within the profound range, may be related to gene mutation. The presence of certain co-morbidities represents a substantial ongoing need for better health. The experience of pain requires further investigation.

© 2015 Wiley Periodicals, Inc.

KEYWORDS:

MECP2; Rett syndrome; clinical characteristics; health; intellectual disabilities

PMID:
25820775
[PubMed - indexed for MEDLINE]
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