脆性 X 症候群是智力、發展和學習障礙以及自閉症最常見的遺傳形式。導致脆性 X 症候群的遺傳問題在於 X 染色體上的單一基因。如果這個基因完全突變，這個基因就無法再發揮其正常功能，它所編碼的蛋白質也不能再產生。缺乏脆弱的 X 蛋白會對身體的不同細胞產生各種影響，特別是腦細胞、神經元。
脆性X基因/蛋白的名稱是脆性X信使核糖核蛋白1，縮寫為FMR1/FMRP。
脆性 X 症候群是一種罕見疾病，僅發生在約 1:4000 的男性和約 1:6000 的女性。
據信患有脆性 X 綜合症的人有正常的預期壽命。然而，通常由於溝通技巧的下降，人們必須意識到受影響的人可能需要幫助來識別和報告健康問題，特別是但不限於成年期。
不。由於脆性 X 症候群引起的蛋白質體學潛在變化的複雜性，不太可能找到真正意義上的藥理學「治癒方法」。
其他理論上可行的干預措施，如「基因剪刀」CRISPR/Cas，在應用中也遇到了其他根本障礙。
有些藥物治療可用於治療一個人可能經歷的症狀（例如焦慮、過動症、胃腸道問題），但沒有一種藥物沒有副作用，必須考慮。
簡短的回答：當然！幾乎可以肯定，您將需要家人的幫助和支持。重要的是，他們要了解您的孩子，並且了解他的特殊需求。
此外，脆性 X 病是一種家庭狀況。這意味著，由於其遺傳模式，它可以出現在家譜的各個分支中。因此，其他家庭成員知道有些事情可能會影響他們的孩子或對子孫後代和計劃生育很重要，這可能非常重要。
Some members of the family may develop feelings of guilt, in the sense that they are responsible for forwarding a genetic condition to their offspring or grandchildren. Talk to them, tell them there is zero responsibility for forwarding a genetic condition. Zero.
Having said all of this, in some cases people choose to tell only selected family members and very few friends as they feel their child will be treated badly if the condition is known. Discrimination and stigmatisation can occur. Sometimes families prefer to explain that their child has mild learning difficulties, or needs support in some areas. FraXI is working against discrimination and stigmatisation, so that the world is much more accepting of people with Fragile X Syndrome.
這是個人決定——一些家庭選擇不告訴患有嚴重智力障礙的脆性 X 綜合症 (FXS) 孩子，因為他們不理解，而且可能會嚇到他們。然而，其他父母認為，讓孩子在成長過程中知道自己患有脆性 X 症候群是最好的選擇。這是他們的一部分。
是否以及何時選擇向您的孩子介紹該主題取決於您。他們可能永遠不會完全理解這種情況，但至少他們有一個理由來解釋為什麼當看到周圍的人（例如在學校）更容易做事時，他們可能會感到困難。請與其他有 FXS 孩子的家庭討論這個問題，並尋求您所在國家組織的支持和建議。
對於孩子來說，與同學或在學校集會上分享自己的情況通常是有好處的。這可以提高人們對脆性 X 症候群的認識，加深對這種疾病的了解，並在學校創造一個更熱情和包容的環境。這種共享可以酌情得到家庭成員（父母或兄弟姐妹）的支持。重要的是要頌揚每個人的個性並促進包容和肯定。
Parents of a child that has been diagnosed with Fragile X Syndrome (FXS) may want to have another child and ask themselves if their next child will also have FXS. As FXS is a genetic condition that is a possibility. The chance that the next child will also have Fragile X Syndrome is about 50:50.
It is possible to use medical interventions that are aimed at ensuring a future child does not have FXS. This is an ethically problematic topic and can be culturally sensitive. Some parents may feel that avoiding a second child with FXS indicates that they also do not really accept their first child. Other parents may prefer to avoid a future child having FXS, much as they love their affected child. It is best to seek advice from your doctor or a genetic counsellor, as the issues are complex and personal.
We list some research opportunities on our website. Also, your national Fragile X association will be contacted by researchers who want to do research about Fragile X. Your association would then do some checks to see if safety and ethical requirements are fulfilled. Provided everything looks in order, they would pass the information on to the association’s members. If you get directly contacted by research institutions, you need to make sure yourself that everything is fine.
特別是在涉及新候選藥物的臨床試驗中，家屬應特別小心，因為其中涉及多種風險。諸如「我真的了解給我的孩子吃什麼嗎？」、「我真的知道可能的副作用嗎？」、「我真的認為我的孩子願意參加試驗嗎？」等問題。這些問題非常重要，應該誠實地考慮和回答。特別是，最後一個問題遠遠不容易回答，因為大多數患有脆性 X 病的人無法自行同意參加醫學試驗。
Please consult with your paediatrician or general practitioner, or whoever medical professional is responsible and would prescribe the desired medication. Make sure they and, in particular, you have completely understood what kind of side effects may occur. Plus, it needs to be kept in mind that people with Fragile X Syndrome may not be able to report medical problems properly. So the time it takes until the caring persons realises there is a problem that occurred with a medication can be longer than usual, and may have gotten more severe until then. In all cases, medical professionals must be involved when considering a pharmaceutical intervention for a person with Fragile X Syndrome, and there must be constant supervision.
