A National Survey of Rett Syndrome: Age, Clinical Characteristics, Current Abilities, and Health

作者：Cianfaglione Rina; Clarke Angus; Kerr Mike; Hastings Richard P; Oliver Chris; Felce David^*

来源：American Journal of Medical Genetics, Part A, 2015, 167(7): 1493-1500.

DOI：10.1002/ajmg.a.37027

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

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, maybe 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.

• 出版日期2015-7
• 单位河北医科大学