FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.
FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.
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DOI：
10.1542/peds.2016-1159e
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发表时间：
2017-06
期刊：
影响因子：
8
通讯作者：
Brown WT
中科院分区：
文献类型：
--
作者：
Sherman SL;Kidd SA;Riley C;Berry-Kravis E;Andrews HF;Miller RM;Lincoln S;Swanson M;Kaufmann WE;Brown WT
由于缺乏数据，脆性X综合征(FXS)患者的护理进展受到阻碍。这一缺陷产生了关于这种疾病的自然病史、医疗保健需求以及疾病对照顾者的影响的零碎知识。为了弥补这一不足，建立了脆性X临床和研究联盟以促进研究。通过集体努力，脆性X诊所和研究联盟开发了具有可访问研究数据库(FORWARD)的脆性X在线登记处，以促进多站点数据收集。这份报告描述了Forward以及它可以用来改善FXS患者及其亲属和照顾者的健康和生活质量的方法。Forward通过一次性登记表收集FXS患者及其家庭成员(受影响和未受影响的)的人口统计信息。纵向数据库收集临床医生和家长报告的FXS患者的数据，重点是0至24岁的人，尽管任何年龄的人都可以参与。登记包括2300名注册者(数据收集于2009年9月7日至2014年8月31日)。纵向数据库包括713名被诊断为FXS的人的数据(数据收集于2012年9月7日至2014年8月31日)。继续收集登记患者的纵向数据以及新患者的基线数据。Forward是美国FXS人群临床和人口数据的最大来源。这些数据可以用来促进我们对FXS的理解：共存条件的影响，对FXS患者及其家人日常生活的影响，以及短期和长期结果。
Advances in the care of patients with fragile X syndrome (FXS) have been hampered by lack of data. This deficiency has produced fragmentary knowledge regarding the natural history of this condition, healthcare needs, and the effects of the disease on caregivers. To remedy this deficiency, the Fragile X Clinic and Research Consortium was established to facilitate research. Through a collective effort, the Fragile X Clinic and Research Consortium developed the Fragile X Online Registry With Accessible Research Database (FORWARD) to facilitate multisite data collection. This report describes FORWARD and the way it can be used to improve health and quality of life of FXS patients and their relatives and caregivers. FORWARD collects demographic information on individuals with FXS and their family members (affected and unaffected) through a 1-time registry form. The longitudinal database collects clinician- and parent-reported data on individuals diagnosed with FXS, focused on those who are 0 to 24 years of age, although individuals of any age can participate. The registry includes >2300 registrants (data collected September 7, 2009 to August 31, 2014). The longitudinal database includes data on 713 individuals diagnosed with FXS (data collected September 7, 2012 to August 31, 2014). Longitudinal data continue to be collected on enrolled patients along with baseline data on new patients. FORWARD represents the largest resource of clinical and demographic data for the FXS population in the United States. These data can be used to advance our understanding of FXS: the impact of cooccurring conditions, the impact on the day-today lives of individuals living with FXS and their families, and short-term and long-term outcomes.