Australian-led research has identified confirmed cases of Down syndrome in ancient human societies.
In a study published on Wednesday, an international team led by Adam Rohrlach from the University of Adelaide screened DNA from 9,855 ancient and pre-modern humans for evidence of chromosomal disorders.
They identified six cases of Down syndrome and one case of Edwards syndrome in human populations that were living in modern-day Spain, Greece, Finland and Bulgaria up to 4,500 years ago, finding that the individuals were buried with care and often with special grave goods.
"While we expected that people with Down syndrome certainly existed in the past, this is the first time we've been able to reliably detect cases in ancient remains, as they can't be confidently diagnosed by looking at the skeletal remains alone," Rohrlach said in a media release.
Down syndrome is a genetic disorder that is caused by an extra copy of chromosome 21. It is typically associated with developmental delays and a level of intellectual disability.
According to Down Syndrome Australia, it affects approximately one out of every 1,150 babies born in Australia, making it the most common genetic cause of intellectual disability.
Edwards syndrome is caused by a person having three copies of chromosome 18 and is rarer and has more severe symptoms than Down syndrome.
All of the cases detected by researchers were from the remains of infants or fetuses. The remains of the child with Edwards syndrome indicated severe bone growth abnormalities and that it died approximately 40 weeks into gestation.
The research team noted an increase in chromosomal disorders in individuals from Spain in the early Iron Age when infants with Edwards or Down syndrome were buried within homes or other important buildings rather than cremated as was customary at the time.
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