Williams Syndrome: What It Is and How It Can Help Understand Human Evolution

Studying the causes of this syndrome allows researchers to explore the development of certain characteristics that define what it means to be human.

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Pablo Martínez-Juarez

Writer
  • Adapted by:

  • Alba Mora

pablo-martinez

Pablo Martínez-Juarez

Writer

Environmental economist and science journalist. For a few years, I worked as a researcher on the economics of climate change adaptation. Now I write about that and much more.

169 publications by Pablo Martínez-Juarez
alba-mora

Alba Mora

Writer

An established tech journalist, I entered the world of consumer tech by chance in 2018. In my writing and translating career, I've also covered a diverse range of topics, including entertainment, travel, science, and the economy.

1599 publications by Alba Mora

Williams syndrome is a condition that exhibits a unique “personality.” Some refer to this as the “Williams syndrome personality,” a hallmark trait of individuals with this rare syndrome.

The cause of Williams syndrome is attributed to genetic factors on chromosome 7. The syndrome arises from the deletion of a region containing between 25 and 28 genes.

This genetic absence can be hereditary. While most cases arise spontaneously, individuals with Williams syndrome have a 50% chance of passing it on to their children due to its autosomal dominant inheritance pattern.

The syndrome affects approximately 1 in every 18,000 to 7,500 individuals, and it occurs equally in both genders.

According to Deborah Riby, an expert at the United Kingdom’s Durham University, Williams syndrome is often associated with specific facial features and several health issues in individuals affected. These include heart problems and difficulties with feeding.

Williams syndrome is generally associated with mild to moderate intellectual disabilities, but one of its most prominent characteristics is a heightened extroversion and confidence. Riby describes the “Williams syndrome personality” as exhibiting traits such as increased sensitivity and awareness.

“Many individuals are highly verbose (far beyond their level of comprehension), some have musical expertise and the majority are highly social. ‘Outgoing,’ ‘over-friendly,’ and ‘emotionally sensitive’ are descriptions used to describe the ‘Williams syndrome personality,’” Riby explains.

Individuals with Williams syndrome also frequently experience hyperacusis, an extreme sensitivity to sound that can lead to significant anxiety. This heightened anxiety can become debilitating.

Moreover, people with the syndrome often have a related vulnerability. They can be overly trusting, according to Alysson Muotri from the University of California, San Diego.

The Opposite of Autism?

Some view a particular disorder as “the opposite of autism” due to the different ways individuals with this condition perceive social interactions. However, this perspective is debatable, according to Riby.

“There are several cognitive domains that are problematic in both disorders. Deficits of non-verbal behaviour such as eye contact, facial expressions, interpreting gestures, are widely reported. Additionally, we know that both disorders are associated with sensory processing difficulties, heightened anxieties and repetitive behaviours or restrictive interests,” she points out.

The presence of both similarities and differences between these conditions suggests that gaining a better understanding of one could enhance the scientific community’s knowledge of the other. In particular, Riby proposes that studying Williams syndrome, which has a clear genetic basis, could provide insights into the biological mechanisms that contribute to the onset of something as complex as autism.

Moreover, this syndrome could also help advance the experts’ understanding of human traits such as empathy, trust, and sympathy. Some researchers are investigating how its traits may shed light on the evolutionary development of these qualities.

Research on this syndrome has identified connections between certain traits and the loss of specific genes. Interestingly, experts are still searching for the gene that would explain why individuals with Williams syndrome tend to be more outgoing and friendly.

Image | digitale.de

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