脆弱的X综合征|诊断和治疗
如何诊断脆弱的X综合征？
Fragile X is diagnosed with a blood test to check for the fragile X gene.
我怎么知道我的孩子是否应该接受脆弱的X测试？
您应该考虑对您的孩子进行脆弱X的测试，如果他或她有任何自闭症-like behaviors,developmental delays，语音或语言延迟或学习障碍。
通常，儿童通常被诊断出患有脆弱的X？
Most parents start to notice symptoms when their children are infants or toddlers. Boys with fragile X are usually diagnosed by age 3. Since girls tend to have milder symptoms, they are often not diagnosed until later.
怀孕期间可以诊断出脆弱的X吗？
可以在怀孕期间检测到脆弱的X基因，但是即使测试显示突变，也无法知道孩子会有哪种症状或他们会有多大的症状。如果您知道自己是脆弱的X基因的载体，或者您的家庭中有脆弱的X史，则应考虑产前测试。
怀孕中脆弱X的测试包括：
- Chorionic villus sampling (CVS):this test is usually done between weeks 10 and 12 of the pregnancy. It checks cells from the placenta for the FMR1 gene.
- Amniocentesis:this test is usually done between weeks 15 and 18 of the pregnancy. It checks amniotic fluid for theFMR1gene.
产前测试对母亲和婴儿都有一些风险，因此在测试前与您的临床医生谈谈利弊。
脆弱X综合征的治疗方法是什么？
There is no one single treatment that is right for every child with fragile X. Treatment is based on a child’s individual symptoms and needs. Some common treatments for children with fragile X include:
- speech and language therapyto improve communication skills
- 职业治疗和physical therapy帮助进行日常活动，例如自我护理，杂务和爱好
- sensory issues
- developmental medicine和special education to work on any educational weaknesses and help develop good learning strategies
- psychiatry和other behavioral health care to help with any behavioral or emotional problems
- 药物帮助脆性X的症状,往下h as seizures, or mood or behavioral problems
脆弱X综合征的专家护理
在波士顿儿童医院Fragile X Program, we’re focused on family centered care to support all of your child’s physical and social needs. Our team can put you in touch with other families who have a child with fragile X and connect you with community and educational services.