Twenty years of surveillance in Rett syndrome: what does this tell us?
Twenty years of surveillance in Rett syndrome: what does this tell us?
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DOI：
10.1186/1750-1172-9-87
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发表时间：
2014-06-19
影响因子：
3.7
通讯作者：
Leonard H
中科院分区：
文献类型：
--
作者：
Anderson A;Wong K;Jacoby P;Downs J;Leonard H
诊断为Rett综合征的儿童的临床特征得到了很好的描述。存活率以及这些特征如何在成年后持续或变化的记录较少。本研究旨在描述Rett综合征患者的总体生存率和成人健康状况。使用Kaplan-Meier方法，我们估计了在澳大利亚Rett综合征数据库（ARSD）中登记的个体的生存率，这些个体已随访长达20年（n = 396）。然后，我们使用ARSD（n = 150）和国际数据库InterRett（n = 273）的横断面队列，对18岁及以上个体的癫痫、肌肉骨骼、胃肠道、自主神经功能障碍和行为进行了logistic和线性回归分析。20年生存率为77.6%，25年为71.5%，37年为59.8%。合并横断面队列的中位年龄为25岁（范围18至54岁），大多数（71%）住在父母家中，其余的在集体之家或其他机构接受照顾。超过一半的人独立行走（18%）或在帮助下行走（43%）。大多数（86%）患有脊柱侧凸，其中40%接受了矫正手术。几乎三分之二（64%）的女性在数据收集时正在服用抗癫痫药物。便秘非常普遍（83%），许多人经历过腹胀（53%）。20名女性（5%）报告了胆道运动障碍、胆囊炎症或感染，其中13名接受了胆囊手术。睡眠障碍相对常见（63%），与年轻和老年组相比，26-30岁的人群中不良情绪事件和焦虑的发生率略高。其他经常报告的疾病包括尿路感染、肺炎和其他呼吸道疾病。Rett综合征的生存率现在已经通过最准确的随访进行了估计。在成年期，持续的多学科服务和计划是必要的，以优化健康和福祉。
The clinical characteristics of children diagnosed with Rett syndrome are well described. Survival and how these characteristics persist or change in adulthood are less well documented. This study aimed to describe overall survival and adult health in those with Rett syndrome. Using the Kaplan-Meier method, we estimated survival of individuals registered with the Australian Rett syndrome Database (ARSD) who had been followed for up to 20 years (n = 396). We then conducted logistic and linear regression analyses investigating epilepsy, musculoskeletal, gastrointestinal, autonomic dysfunction and behaviour of individuals aged 18 years and over using cross sectional cohorts from the ARSD (n = 150) and the international database InterRett (n = 273). The likelihood of survival was 77.6% at 20 years, 71.5% at 25 years and 59.8% at 37 years. The median age of the combined cross-sectional cohort was 25 years (range 18 to 54 years), the majority (71%) were living in their parental home and the remainder being cared for in group homes or other institutions. Just over half walked either independently (18%) or with assistance (43%). The majority (86%) had scoliosis with 40% of those having undergone corrective surgery. Almost two-thirds (64%) of the women were taking anti-epileptic medications at the time of data collection. Constipation was highly prevalent (83%) and many experienced bloating (53%). Biliary dyskinesia, inflammation or infection of the gallbladder was reported for 20 women (5%) and of those 13 had undergone gallbladder surgery. Sleep disturbance was relatively common (63%), and adverse mood events and anxiety were slightly more prevalent in those aged 26-30 years in comparison to the younger and older age groups. Other frequently reported medical conditions included urinary tract infections, pneumonia and other respiratory conditions. Survival in Rett syndrome has now been estimated with the most accurate follow up to date. During adulthood, continuation of multidisciplinary services and programs is necessary to optimise health and wellbeing.
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影响因子：
9.9
作者：
Bebbington, A.;Anderson, A.;Leonard, H.
通讯作者：
Leonard, H.
DOI：
10.1097/mpg.0b013e31829e0b65
发表时间：
2013-10-01
影响因子：
2.9
作者：
Leonard, Helen;Ravikumar, Madhur;Downs, Jenny
通讯作者：
Downs, Jenny
影响因子：
4
作者：
Cuddapah VA;Pillai RB;Shekar KV;Lane JB;Motil KJ;Skinner SA;Tarquinio DC;Glaze DG;McGwin G;Kaufmann WE;Percy AK;Neul JL;Olsen ML
通讯作者：
Olsen ML
影响因子：
3.8
作者：
Cass, H;Reilly, S;Charman, T
通讯作者：
Charman, T
影响因子：
1.9
作者：
Foley, Kitty-Rose;Downs, Jenny;Leonard, Helen
通讯作者：
Leonard, Helen