Fossil reveals first case of Down syndrome in Neanderthals

Researchers have found that Neanderthals, an extinct group of archaic humans living in Eurasia until about 40,000 years ago, were capable of providing altruistic care. The first case of Down syndrome in Neanderthals revealed via a fossil analysis shows that they provided support for the vulnerable members of their social group.

Based on skull anatomy, the Neanderthal child survived until age six despite having Down syndrome, a genetic disorder caused by the presence of all or a portion of a third copy of chromosome 21. The disorder can cause intellectual disability, growth retardation, and developmental delays.

The fossil of the child was found during excavations at Cova Negra, a cave in Valencia, Spain.

Micro-computed tomography scans used

An international team, including Binghamton University anthropologist Rolf Quam, utilized micro-computed tomography scans to study the fossil and subsequently documented this groundbreaking case of Down syndrome in Neanderthals.

“The excavations at Cova Negra have been key to understanding the way of life of the Neanderthals along the Mediterranean coast of the Iberian Peninsula and have allowed us to define the occupations of the settlement: of short temporal duration and with a small number of individuals, alternating with the presence of carnivores,” said University of Valencia Professor of Prehistory Valentín Villaverde.

The researchers made micro-computed tomography scans of a small cranial fragment from the right temporal bone , encompassing the ear region. This enabled them to reconstruct a three-dimensional model for precise measurement and analysis.

Neandertal child suffered from a congenital pathology of the inner ear

The Neandertal child, whom they affectionately named “Tina,” suffered from a congenital pathology of the inner ear associated with Down syndrome that produced severe hearing loss and disabling vertigo. This individual survived to at least six years of age but would have required extensive care from other members of their social group, according to researchers.

Professor of Anthropology Rolf Quam stated that it was a fantastic study, combining rigorous archaeological excavations, modern medical imaging techniques, and diagnostic criteria to document Down syndrome in a Neanderthal individual for the first time. “The results have significant implications for our understanding of Neandertal behavior,” Quam concluded.

The existence of caregiving for sick or injured individuals among Neanderthals has been known for a long time, although interest in understanding the implications of this behavior has increased in recent years. Such caregiving within Neanderthal communities may be linked to a broader and more complex social context, holding significant adaptive value.

The study is published in Science Advances .