Williams Syndrome: Is it Connected to Autism?

Williams Syndrome, ¿what is it?

Williams Syndrome is a rare genetic pathology caused by the loss of genes on chromosome 7. It affects one in 20,000 live births worldwide and does not distinguish sex or ethnicity, nor is it hereditary

It was first identified in 1961 and can cause heart problems, developmental delays, and learning difficulties. People with Williams syndrome are friendly and outgoing, but tend to have low IQs; this makes simple tasks, such as counting money become complex.

Some of its symptoms are specific heart defects, a distinctive face shape with a small, snub nose, wide mouth, pronounced lips and small chin. Dental and orthopedic problems are common, as well as extreme anxiety caused by stimuli, such as the buzzing of bees or a meal’s texture .

From a neurological point of view, people with it have delays in intellectual and cognitive development. However, their use of language can be exceptional, and they may have musical skills. On the other hand, many of them are highly sociable people; they tend to be kind and confident with strangers, despite high levels of anxiety. 

Studies have not yet made clear how genetics produce the characteristics attached to the behavior of children with Williams Syndrome.

Autism and Williams Syndrome

While it is true that both autism and Williams Syndrome are opposing pathologies from the point of view of social behavior, they have intellectual deficit in common.

Autism and Williams Syndrome are neuropsychiatric developmental disorders with opposing alterations in social interaction; while autism is characterized by a difficulty in establishing social bonds and a lack of interest in social contact, people with Williams Syndrome, on the contrary, causes disinhibition when interacting with other people, even generating excessive sympathy for others.

The divergent nature of both disorders regarding social behavior has motivated the study of neurobiological mechanisms of social disorders and the autism spectrum genetics to establish a comparative framework. A neurogenetic study could contribute to understanding the relationship between genes, neuronal functioning, physiology, and social interaction.

Scientists at the University of California, San Diego, and the Institute of Biological Studies have carried out a model of neurological development of Williams Syndrome that involves molecular genetics, stem cells, neurobiology, and behavior.

Alyssin Muotri of the San Diego School of Medicine, at the University of California became interested in Williams Syndrome due to its differences from autism, a disorder that stands out for its significant deficit in social and verbal skills.

For several years, Muotri has generated cellular models using stem cells from baby teeth that children with autism had lost; this project was called “Mouse Perez.” The same project was started for children with Williams Syndrome.

The team developed the project again by reprogramming the cells and turning them into neural progenitor cells, with the ability to form, in a controlled environment, functional neural networks similar to those of the cerebral cortex.

Neurons cultured from the baby teeth with Williams Syndrome have a greater number of ramifications than the neurons of a child who developed normally. Connections with other neurons could be the cause of the characteristics of excessive sociability. 

This research could help to better understand autism and other disorders that affect the social brain; it also constitutes an initial effort to use stem cells and gain new knowledge about a disease and not simply to reproduce data from other models. The Williams Syndrome model can help explain what makes human beings social, a key development in the evolution of humanity.

Fuentes

:https://abcblogs.abc.es/cosas-cerebro/investigacion/autismo-y-sindrome-de-williams-dos-trastornos-opuestos.html, http://sindromedewilliamsymisersingular.blogspot.com/2010/08/sindrome-de-williams-y-autismo-como.html

girl in therapy

This syndrome can affect in so many ways.

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