Modelling the lifetime social and economic impacts of fragile x syndrome and the benefits of early diagnosis and intervention

该项目属于国家研究优先事项，通过健康的生命开端和加强生命过程中的社会和经济成果来促进和保持良好的健康。脆性X是一组相关的遗传疾病，影响着几代人。这是导致遗传性智力残疾的最常见的可识别原因。大约每4000名男性和每8000名女性中就有一人患有脆性X染色体，但高达每250名女性中就有一人是携带者。这项研究将首次在澳大利亚揭示对个人、他们的家庭成员(通常是终生照顾者)和澳大利亚社区的社会和经济影响，并展示如何通过早期干预将这些影响降至最低。

This project falls within the National Research Priority, promoting and maintaining good health, through a healthy start to life and strengthening of social and economic outcomes over the course of life. Fragile X is a group of associated genetic disorders affecting individuals across generations. It is the most common identifiable cause of inherited intellectual disability. About 1 in 4000 males and 1 in 8000 females have Fragile X, but up to 1 in 250 females are carriers. For the first time in Australia, this study will reveal the social and economic impacts on the individual, on their family members who are often the lifelong carers, and on the Australian community, and show how these impacts may be minimised through early intervention.