Department of Educational Psychology and Special Education, Southern Illinois University Carbondale, Carbondale, Illinois 62901, USA.
Am J Med Genet A. 2011 Nov;155A(11):2634-40. doi: 10.1002/ajmg.a.34283. Epub 2011 Oct 11.
The purpose of the study is to provide data about long-term survivors with full trisomy 13 (t13). Mothers of 30 long-term survivors with full t13 completed an online survey. Survey data were downloaded into an SPSS database. Descriptive statistics were used to analyze survey data. Tracking Rare Incidence Syndrome (TRIS) Survey data on survival, birth information including maternal and paternal age at conception, physical characteristics, and medical conditions were compared. Data indicate longer mean survival rates (48.4 months for those living at the time of data collection, 40.8 months for those who died prior) than described in the literature. Means for gestations age, birth weight, and length are 38.11 weeks, 2,789.34 g and 48.45 cm, respectively. Long-term survivors presented with syndrome-related physical characteristics (e.g., low-set ears, cleft lip and palate) and medical conditions (e.g., ventricular septal defect (VSD), feeding difficulties). We conclude that data indicate longer survival and a range in birth information (gestational age, birth weight, and length) along with presence of common presenting physical characteristics and medical conditions of long-term survivors with full t13.
这项研究的目的是提供关于完全三体 13(t13)的长期幸存者的数据。30 名完全 t13 长期幸存者的母亲完成了一项在线调查。调查数据被下载到 SPSS 数据库中。使用描述性统计来分析调查数据。追踪罕见疾病综合症(TRIS)调查数据,比较了生存率、出生信息(包括母亲和父亲受孕时的年龄)、身体特征和医疗状况。数据表明,平均生存率(在数据收集时仍存活的人的平均生存率为 48.4 个月,之前死亡的人的平均生存率为 40.8 个月)高于文献中的描述。妊娠期、出生体重和身长的平均值分别为 38.11 周、2789.34 克和 48.45 厘米。长期幸存者表现出与综合征相关的身体特征(例如低位耳、唇腭裂)和医疗状况(例如室间隔缺损(VSD)、喂养困难)。我们的结论是,数据表明,完全三体 13 的长期幸存者的生存率延长,且在出生信息(胎龄、出生体重和身长)方面存在差异,同时存在常见的身体特征和医疗状况。