Sibling risk of pervasive developmental disorder estimated by means of an epidemiologic survey in Nagoya, Japan
Sibling risk of pervasive developmental disorder estimated by means of an epidemiologic survey in Nagoya, Japan
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DOI：
10.1007/s10038-006-0392-7
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发表时间：
2006-06-01
影响因子：
3.5
通讯作者：
Tanemura, Mitsuyo
中科院分区：
文献类型：
--
作者：
Sumi, Satoshi;Taniai, Hiroko;Tanemura, Mitsuyo
广谱自闭症，被称为广泛性发育障碍（PDD），可能与遗传因素有关。我们检查了269个日本家庭中的241个兄弟姐妹。PDD的同胞发病率为10.0%，而同一地理区域的一般人群中PDD的患病率为2.1%。这两种发生率均高于先前报告的发生率，可能是因为应用了扩展的临床标准。一般人群中男性患病率为3.3%，女性患病率为0.82%。先证者为男性和女性的家系同胞患病率分别为7.7%和20.0%。由于反转的性别比对应于多因素阈值模型的一般规则，我们认为大多数PDD病例是多因素（主要是遗传）累积效应的结果。先证者低出生体重和正常出生体重家系的同胞发病率分别为0和10.9%，表明低出生体重先证者家系的风险较低。
Broad-spectrum autism, referred to as pervasive developmental disorder (PDD), may be associated with genetic factors. We examined 241 siblings in 269 Japanese families with affected children. The sibling incidence of PDD was 10.0% whereas the prevalence of PDD in the general population in the same geographic region was 2.1%. Both of these rates are higher than those reported previously, probably because of the expanded clinical criteria applied. The prevalence in males of the general population was 3.3% and that in females was 0.82%. The sibling incidences were 7.7 and 20.0% for families in which the probands were male and female, respectively. Because the reversed sex ratios correspond to the general rule for a multifactorial threshold model, we suggest that most PDD cases result from the cumulative effects of multiple factors (mostly genetic). The sibling incidences were 0 and 10.9% for families in which the proband had low and normal birth-weight, respectively, suggesting the risk is lower in families with low-birth-weight probands.