Winarni Tri Indah, Schneider Andrea, Borodyanskara Mariya, Hagerman Randi J
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California at Davis Medical Center, Sacramento, CA 95817, USA ; Department of Pediatrics, University of California at Davis Medical Center, Sacramento, CA 95817, USA ; Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Jl. Dr. Soetomo No. 14, Central Java, Semarang 50231, Indonesia.
Case Rep Genet. 2012;2012:280813. doi: 10.1155/2012/280813. Epub 2012 Mar 26.
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability due to an expansion in the full mutation range (>200 CGG repeats) of the promoter region of the FMR1 gene leading to gene silencing. Lack of FMRP, a critical protein for dendritic spine formation and maturation, will cause FXS. Early environmental enrichment combined with pharmacological intervention has been proven to rescue dendritic spine abnormalities in the animal model of FXS. Here we report on 2 young children with FXS who were treated early with a combination of targeted treatment and intensive educational interventions leading to improvement in their cognition and behavior and a normal IQ.
脆性X综合征（FXS）是最常见的遗传性智力障碍病因，由于FMR1基因启动子区域的全突变范围（>200个CGG重复序列）扩增导致基因沉默。缺乏FMRP（一种对树突棘形成和成熟至关重要的蛋白质）会导致脆性X综合征。早期环境丰富化与药物干预相结合已被证明可挽救脆性X综合征动物模型中的树突棘异常。在此，我们报告2例脆性X综合征幼儿，他们早期接受了靶向治疗和强化教育干预相结合的治疗，从而使认知和行为得到改善，智商恢复正常。
