Prevalence estimation of Williams syndrome
Prevalence estimation of Williams syndrome
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DOI：
10.1177/088307380201700406
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发表时间：
2002-04-01
影响因子：
1.9
通讯作者：
Ramstad, K
中科院分区：
文献类型：
--
作者：
Stromme, P;Bjornstad, PG;Ramstad, K
关于威廉姆斯综合征发生率的基于人群的数据有限。我们估计其患病率结合两项调查的数据。其中一项是流行病学研究，最初的目的是评估1993年贾尔马里1日出生于阿克尔舒斯县、1980年至1985年出生的30 037名挪威儿童中精神发育迟滞的患病率和病因。另一项调查是对威廉姆斯综合征的全国性调查。在第一项研究中，213名儿童被转诊进行评估，而第二项研究包括57例出生于1970年至1992年之间的威廉姆斯综合征患者，这些患者来自挪威所有县。流行病学研究发现3名儿童患有威廉姆斯综合征，而在全国调查中又发现了1例符合我们人口统计学标准的病例，因此患病率为1/7500。在所有病例中，检测到典型的染色体7q11.23缺失。我们还得出结论，威廉姆斯综合征并不是一种罕见的原因，精神发育迟滞，约6%的患者的遗传病因的患病率。
There are limited population-based data on the occurrence of Williams syndrome. We estimated its prevalence combining data from two investigations. One was an epidemiologic study originally designed to assess the prevalence and etiology of mental retardation among 30,037 Norwegian children born between 1980 and 1985 and living in Akershus County on Jarmary 1, 1993. The other investigation was a national survey of Williams syndrome. In the first study, 213 children were referred for evaluation, whereas the second study comprised 57 cases with Williams syndrome born between 1970 and 1992, who were referred for evaluation from all Norwegian counties. The epidemiologic study revealed three children with Williams syndrome, whereas one additional case complying with our demographic criteria was identified in the national survey, thus giving a prevalence of 1 in 7500. In all cases, a typical chromosome 7q11.23 deletion was detected. We also conclude that Williams syndrome is not an uncommon cause of mental retardation, with a prevalence of approximately 6% of patients with genetic etiology.