First Down syndrome case discovered 145,000 years ago

Scientists claim to have discovered the first case of Down syndrome in Neanderthals, who became extinct around 40,000 years ago, suggesting that archaic humans were compassionate caregivers.

The Spain-based team analyzed a small skull fragment from a six-year-old child they named Tina, who lived 145,000 years ago, and found that the fossil was consistent with features seen in children with genetic disorders.

The analysis showed that Tina suffered from a congenital pathology of the inner ear linked to a genetic disorder, and likely experienced severe hearing loss and vertigo.


The discovery suggested that Neanderthals had the ability to provide altruistic care and support to a vulnerable member of their social group as the child survived years after birth.

Dr. Mercedes Conde-Valverde, professor at the University of Alcalá and lead author of the study, told DailyMail.com, "Until now, diagnosing Down syndrome in fossil specimens was only possible through analysis of ancient DNA. In our study, we were able to diagnose the inner ear through an anatomical study."

"This opens up the possibility of studying the potential presence of Down syndrome in fossil specimens and thus documenting its prevalence in past populations."


The fossils were found in Cova Negra, a cave site in Valencia that was excavated from 1929 to 2017.

Researchers recently analyzed remains found during an excavation in 1989, revealing three new fossils that had previously been overlooked.

Although the age cannot be determined, the team believes they are between 146,000 and 273,00 years old, based on the time when the now-extinct species lived in the area.