2011AAP 美国脆性X综合征患儿的卫生管理：临床报告

中文标题：

2011AAP 美国脆性X综合征患儿的卫生管理：临床报告

英文标题：

2011AAP Clinical Report−−Health Supervision for Children With Fragile X Syndrome

发布机构：

美国儿科学会

发布日期：

2011-05-01

简要介绍：

Fragile X syndrome (an FMR1–related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is difficult, so boys with developmental delay should be strongly considered for molecular testing. The characteristic adult phenotype usually does not develop until the second decade of life. Girls can also be affected with developmental delay. Because multiple family members can be affected with mental retardation and other conditions (premature ovarian failure and tremor/ataxia), family history information is of critical importance for the diagnosis and management of affected patients and their families. This report summarizes issues for fragile X syndrome regarding clinical diagnosis, laboratory diagnosis, genetic counseling, related health problems, behavior management, and agerelated health supervision guidelines. The diagnosis of fragile X syndrome not only involves the affected children but also potentially has significant health consequences for multiple generations in each family.