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Scientists have employed DNA analysis to diagnose Down syndrome in the ancient bones of seven infants. This new method offers insights into the historical prevalence and treatment of Down syndrome.

Down syndrome, occurring in 1 in 700 babies today, is characterized by an extra copy of chromosome 21, leading to an overproduction of proteins and various developmental challenges, including heart defects and learning disabilities. 

Historically, factors such as maternal age and limited medical interventions likely influenced the prevalence and survival rates of people with Down syndrome.

DNA analysis

Identifying Down syndrome in ancient skeletons was challenging due to the condition's variability and the lack of distinct skeletal markers. In the past, archaeologists struggled to confidently diagnose based solely on bone morphology, highlighting the need for alternative diagnostic methods.

Recent advancements in genetic analysis have enabled the diagnosis of Down syndrome through ancient DNA. Scientists developed a novel method to detect genetic signatures associated with Down syndrome in archaeological remains. By scanning a database of DNA fragments from thousands of bones, they identified six cases with an extra chromosome 21, confirming the presence of Down syndrome in prehistoric populations.

Significance of findings

While the study did not provide conclusive prevalence rates, the discovery of multiple cases of Down syndrome in neighboring cities in northern Spain between 2,800 and 2,400 years ago suggested intriguing burial practices and societal attitudes toward people with disabilities. The infants were buried inside buildings and sometimes with jewelry, possibly indicating special treatment or cultural significance.

The findings emphasized the need for further exploration into the genetic history of rare conditions and their societal implications. By comparing genetically identified cases of Down syndrome, researchers hope to uncover common traits and gain a deeper understanding of ancient populations' attitudes and practices regarding people with disabilities.