《AAP脆性X综合征患儿的卫生管理：临床报告.》内容预览

Fragile X syndrome (an FMR1–related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is dif-ficult, 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 pa-tients and their families. This report summarizes issues for fragile Xsyndrome regarding clinical diagnosis, laboratory diagnosis, genetic counseling, related health problems, behavior management, and age-related health supervision guidelines. The diagnosis of fragile X syn-drome not only involves the affected children but also potentially has significant health consequences for multiple generations in each fam-ily. Pediatrics 2011;127:994–1006

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