Objective

This paper aims to provide a quantitative estimation of the representation of diseases defined as rare today in the bioarchaeological literature and to outline the reasons for this.

Materials

A 45-year bibliometric study of publications in seven bioarchaeological journals, along with two journals and editorial groups of broader scientific focus.

Methods

Analyses of distribution patterns of the search hits and diachronic trends for achondroplasia, autosomal-dominant osteopetrosis, osteogenesis imperfecta, and osteopoikilosis, compared to those for tuberculosis as control measure of coverage.

Results

Studies of ancient rare diseases (ARD) are mostly published as case reports in specialized journals and their number did not benefit from the introduction of biomolecular studies. The higher frequency of cases of achondroplasia suggests that not all rare diseases are equally under-represented.

Conclusions

Rare diseases are still largely under-represented in bioarchaeological literature. Their marginality likely results from a combination of taphonomic, methodological and public visibility factors.

Significance

This article is the first attempt to provide a quantitative assessment of the under-representation of ARD and to outline the factors behind it.

Limitations

Rare diseases are an etiologically heterogeneous group. The number of surveyed journals and articles, as well as targeted diseases might be limiting factors.

Suggestions for Further Research

Increasing collection and dissemination of data on ARD; opening a wide-ranging debate on their definition; implementation of biomolecular studies.

中文翻译：

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稀有有多稀有？近45年古代罕见病古病理学研究文献综述

客观的

本文旨在对生物考古文献中今天定义为罕见的疾病的代表性进行定量估计，并概述其原因。

材料

对 7 种生物考古学期刊以及两种更广泛科学领域的期刊和编辑组发表的 45 年文献计量研究。

方法

分析软骨发育不全、常染色体显性骨硬化症、成骨不全症和骨质疏松症的搜索命中分布模式和历时趋势，与结核病的分布模式相比，作为覆盖的控制措施。

结果

古代罕见病 (ARD) 的研究大多以病例报告的形式发表在专业期刊上，其数量并未从生物分子研究的引入中受益。软骨发育不全病例的较高频率表明并非所有罕见疾病的代表性均不足。

结论

罕见疾病在生物考古文献中的代表性仍然不足。它们的边缘性可能是由于埋藏学、方法论和公众知名度因素的综合作用造成的。

意义

本文首次尝试对 ARD 的代表性不足进行定量评估，并概述其背后的因素。

限制

罕见病是一个病因异质的群体。接受调查的期刊和文章的数量以及目标疾病可能是限制因素。

进一步研究的建议

增加 ARD 数据的收集和传播；就其定义展开广泛的辩论；生物分子研究的实施。