Purpose

To determine the prevalence and sociodemographic and hospitalization history of genetic conditions in a sample of inpatients in a pediatric hospital in 2017, and to compare results with unpublished studies from 1985, 1995, and 2007.

Methods

Two weeks of admissions were classified according to a pre-existing categorization, based on genetic etiology, encompassing chromosomal and monogenic conditions, multifactorial (MF) conditions, and no known genetic cause.

Results

In 2017, 299 (16%) patients had chromosomal or monogenic conditions, 6–7% more than 2007 and 1995, but similar to 1985. Autosomal dominant (AD) conditions increased from <2% previously to 6% in 2017 (p < 0.001). MF conditions comprised the majority throughout, increasing from 45% to 54%. Age at admission was highest in autosomal recessive (AR) and X-linked categories in 1995, 2007, and 2017, reflected in their high number of previous admissions, while the AD, MF, and nongenetic categories were the youngest with similar lengths of stay and previous admissions.

Conclusion

Conditions with a genetic contribution account for over half of pediatric inpatients. Since 1985, there have been many changes in age at admission and length of stay, but it is the increasing prevalence of AR, AD, and MF conditions that is important when considering future service provision.

中文翻译：

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遗传学和儿科住院，1985 年至 2017 年。

目的

确定 2017 年儿科医院住院患者样本中遗传病的患病率、社会人口学和住院史，并将结果与​​ 1985 年、1995 年和 2007 年未发表的研究进行比较。

方法

两周的入院是根据预先存在的分类，基于遗传病因，包括染色体和单基因疾病、多因素 (MF) 疾病和没有已知的遗传原因。

结果

2017 年，299 名（16%）患者患有染色体或单基因疾病，比 2007 年和 1995 年增加 6-7%，但与 1985 年相似。常染色体显性遗传（AD）疾病从之前的 <2% 增加到 2017 年的 6%（p  < 0.001)。MF 条件占大多数，从 45% 增加到 54%。1995 年、2007 年和 2017 年，常染色体隐性遗传 (AR) 和 X 连锁类别的入院年龄最高，这反映在他们之前入院的人数众多，而 AD、MF 和非遗传类别是最年轻的，住院时间相似和以前的录取。

结论

具有遗传贡献的疾病占儿科住院患者的一半以上。自 1985 年以来，入院年龄和住院时间发生了许多变化，但在考虑未来的服务提供时，AR、AD 和 MF 的患病率越来越高。