Down syndrome detected in a Neanderthal for the first time

A new study documents the first known case of Down syndrome in a Neanderthal. It also shows how ancient people cared for a defenseless member of their clan.

Excavations in the Cova Negra cave in Valencia, Spain, have revealed the skeletal remains of a Neanderthal child who was affectionately named “Tina”. By comparing Tina’s bones to those of other Neanderthals, scientists estimate that the child was at least 6 years old when she died.

Micro-CT scans of a small section of Tina’s skull allowed scientists to obtain three-dimensional images of the skull’s internal structure.

Their findings, published in Advances in sciencereveal something never before seen in Neanderthals.

Tina’s inner ear bone structure matches the description of someone with Down syndrome. Among the inner ear bone malformations are some that could cause a child to have severe hearing loss and balance problems.

The fact that Tina managed to live to at least the age of 6 is evidence of the high level of altruistic care provided to the child by this group of Neanderthals.

“The results have important implications for our understanding of Neanderthal behavior,” says co-author Rolf Quam, a professor at Binghamton University in New York, US.

Although Neanderthals have been known to care for people with disabilities for decades, all previous cases involved adults. This suggested mutual aid between equals.

“Until now, there has never been a known case of someone receiving help, even if they had no way of repaying it, which would prove that there was true altruism among Neanderthals. That’s what Tina’s discovery means,” says lead author Mercedes Conde, a professor at the University of Alcalá in Spain.

The child was found in a newly discovered layer at Cova Negra. The layer is composed mostly of Middle Paleolithic material (300,000–50,000 years ago) and about a quarter of Upper Paleolithic material (50,000–12,000 years ago).

Cova Negra was used by Neanderthals sporadically and for short periods of time. Small groups of ancient people used the cave alternately with predators such as bears, wolves and cats.

“The excavations at Cova Negra have played a key role in understanding how Neanderthals lived along the Mediterranean coast of the Iberian Peninsula and have allowed us to define the activities carried out by this settlement,” says senior author Valentín Villaverde, a professor at the University of Valencia in Spain.