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您所在的位置:首頁 > 精神科診療指南 > AAP脆性X綜合征患兒的衛(wèi)生管理:臨床報告.

AAP脆性X綜合征患兒的衛(wèi)生管理:臨床報告.

2013-08-28 11:00 閱讀:1078 來源:愛愛醫(yī)資源網(wǎng) 責(zé)任編輯:愛愛醫(yī)資源
[導(dǎo)讀] Fragile X syndrome (an FMR1related disorder) is the most commonly inherited form of mental retardation. Early physical recognition is dif-cult, so boys with developmental delay should be strongly considered for molecular testing. The chara

《AAP脆性X綜合征患兒的衛(wèi)生管理:臨床報告.》內(nèi)容預(yù)覽

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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