Genetic, family and social determinants of the burden and outcome in Rett syndrome: a population-based investigation

Rett综合征是一种严重的神经系统疾病，主要影响女性。出生时患有Rett综合征的孩子通常看起来很正常，但在第二年就会失去技能。随着时间的推移，他们在智力和身体上的严重缺陷变得越来越明显。1999年，Rett综合征和MECP2基因突变之间的联系被发现。在澳大利亚，自1993年以来，我们登记了所有被诊断患有Rett综合征的女孩和年轻妇女的基本信息。在登记的248例病例中，超过四分之三的病例已经进行了基因检测。2000年和2002年分别收集了关于日常工作能力、行为、手部功能、医疗状况以及卫生和教育服务使用情况的额外信息。2002年，关于家庭幸福的问题也被纳入调查。从2004年至2007年，将收集有关受影响儿童及其家庭的功能、健康和福祉的进一步资料。这将通过电话访谈、问卷调查、录像、现有医疗记录、临床评估和检查进行。这将包括在2004年完成日历，其中将提供估计这些儿童的保健和医疗费用所需的信息。2004年，还将通过问卷和日历向唐氏综合症儿童的父母收集类似的信息。这些信息将用于比较Rett综合征和唐氏综合征的社会和经济负担，后者是智力残疾的常见原因。这项研究还将表明，是否有可能从早期基因检测结果中预测患Rett综合征的儿童日后会受到多严重的影响。这也将决定一些管理方法是否能改善女孩及其家人的长期前景。最后，这项研究将调查为什么一些家庭比其他家庭更好地应对这种毁灭性的疾病。这项研究只能在澳大利亚进行，因为我们在这里建立了持续的登记。

Rett syndrome is a severe disorder of the nervous system mainly affecting females. At birth children with Rett syndrome often seem normal but in their second year lose skills. With time it becomes clear that they are severely intellectually and physically handicapped. In 1999 the link between Rett syndrome and a mutation in the gene, known as MECP2, was found. In Australia since 1993, we have had a register of basic information on all girls and young women diagnosed with Rett syndrome. Over three quarters of the register s 248 cases have now been genetically tested. In 2000 and again in 2002, extra information on ability to do everyday tasks, behaviour, hand function, medical conditions, and use of health and education services was collected. In 2002 questions on family well being were also included. From 2004 to 2007, further information will be gathered on function, health and well being of the affected child and their family. This will be by telephone interview, questionnaire, video recording, existing medical records, clinical assessments and tests. This will include in 2004 completion of calendars which will provide information needed to estimate health and medical care costs for these children. Similar information by questionnaire and calendar will also be collected from the parents of children with Down syndrome in 2004. The information will be used to compare the social and financial burden of Rett syndrome with Down syndrome, a commoner cause of intellectual disability. The research will also show if it is possible to predict from early genetic test results how severely a child with Rett syndrome will later be affected. It will also determine whether some ways of management improve the long-term outlook for the girl and her family. Finally this study will investigate why some families cope better with this devastating disorder than others. This research is only possible in Australia because of the ongoing register we have set up here.