A Population-Based Profile of 160 Australians with Prader-Willi Syndrome: Trends in Diagnosis, Birth Prevalence and Birth Characteristics
A Population-Based Profile of 160 Australians with Prader-Willi Syndrome: Trends in Diagnosis, Birth Prevalence and Birth Characteristics
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DOI：
10.1002/ajmg.a.36845
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发表时间：
2015-02-01
影响因子：
2
通讯作者：
Rowell, Margaret M.
中科院分区：
文献类型：
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作者：
Lionti, Tess;Reid, Susan M.;Rowell, Margaret M.
普瑞德-威利综合征识别和诊断的感知时间趋势是更新该综合征个体流行病学概况的基本原理。来自维多利亚Prader-Willi综合征登记册的数据被用于探索出生患病率、出生特征、诊断时间和分子机制，并确定随时间变化的趋势。通过分子机制比较了产妇年龄、出生胎龄、小胎龄和性别。1951年至2012年间，在澳大利亚维多利亚州出生的普拉德-威利综合征患者中，有160人患有普拉德-威利综合征。2003-2012年，分子诊断为Prader-Willi综合征的个体的出生患病率估计为1:15 830。与1973-1981年相比，2003-2012年的十年中，分子诊断率从58%增加到96%，分子机制的更完整鉴定（42%对83%），分子诊断更早（1.3年对8.6周），母亲单亲二体的相对比例从0%上升到45%。四分之一的婴儿早产，53%的婴儿小于胎龄。这项研究证实了诊断模式的时间变化，表明母亲单亲染色体失调作为一种分子机制的相对贡献更大，提供了更可靠的出生患病率估计，并为该群体提供了子宫内生长受限的证据。这些发现具有重要的临床和卫生服务提供意义，并为普拉德-威利综合征的进一步研究铺平了道路。(c) 2014 Wiley期刊公司
Perceived temporal trends in recognition and diagnosis of Prader-Willi syndrome served as the rationale for an updated epidemiological profile of individuals with this syndrome. Data from the Victorian Prader-Willi Syndrome Register were used to explore birth prevalence, birth characteristics, timing of diagnosis, and molecular mechanism, and to identify trends over time. Maternal age, birth gestation, small for gestational age, and sex were compared across molecular mechanisms. Between 1951 and 2012 there were 160 individuals with Prader-Willi syndrome, known to the Victorian Prader-Willi Syndrome Register, who were born in the Australian state of Victoria. The birth prevalence for individuals with a molecular diagnosis of Prader-Willi syndrome was estimated to be 1:15,830 for 2003-2012. Compared to 1973-1981, the decade 2003-2012 saw an increase in the rate of molecular diagnosis from 58% to 96%, more complete identification of the molecular mechanism (42% vs. 83%), earlier molecular diagnosis (1.3 years vs. 8.6 weeks), and a rise in the relative proportion of maternal uniparental disomy from 0% to 45%. One quarter of infants was born preterm and 53% were small for gestational age. This study confirms a temporal change in diagnostic patterns, suggests a greater relative contribution of maternal uniparental disomy as a molecular mechanism, provides a more robust estimate of birth prevalence and provides evidence of in utero growth restriction for this group. These findings have important clinical and health service delivery implications and pave the way for further research in Prader-Willi syndrome. (c) 2014 Wiley Periodicals, Inc.