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Williams Syndrome

The Salk Institute's Laboratory for Cognitive Neuroscience examines how the brain is organized in normal individuals, as well as individuals afflicted with a variety of brain disorders, including autism, Down syndrome, and Williams syndrome – the latter is a genetic disorder that affects one in approximately 20,000 births. Genetic work has demonstrated that Williams syndrome is associated with the deletion of a specific part of the human chromosome 7. Children affected by it share a variety of physical traits, including heart defects and a distinct set of facial abnormalities.

Most are never capable of living independently, but they possess extremely well developed language skills. One patient who typifies the syndrome is an 18-year-old girl who cannot tie her shoes, but possesses a rich vocabulary and an affinity for vivid oral story telling. They are also extraordinarily social.

Salk researchers have developed a battery of tests that measure cognitive abilities according to specific and discreet domains. These assays include language processing tests and tests of spatial abilities. By comparing test results from Williams syndrome children and children with Down syndrome, Salk researchers have shown that specific differences exist between these groups. The Down syndrome children perform relatively well in tests of spatial ability but poorly in language skills, whereas the Williams syndrome children have the opposite profile.

Ideally, researchers would like to pinpoint the differences in brain structure that are responsible for the different abilities. Toward this goal, Institute scientists are developing a bioimaging facility. This facility is devoted to producing computerized three-dimensional images of subjects' brains from two-dimensional MRI (magnetic resonance imaging) data. The computer allows researchers to manipulate the images, and to isolate and compare the brains of normal children and children with cognitive disorders. This technique allows researchers to identify brain regions that are associated with specific functions and abilities – in short, to correlate brain structure and behavior.

In collaboration with other research groups, Salk scientists have found structural comparisons between autistic children and Williams syndrome children. In marked contrast to Williams syndrome children, autistic children often excel at spatial tests, such as using blocks to reproduce a pattern, but typically lack developed language skills and are markedly unsociable.

The Laboratory for Cognitive Neuroscience maintains close ties with the families of Williams syndrome children. Many of the children come from all over the country on an annual basis to undergo testing at the Salk Institute. Maintaining a close ongoing relationship in this manner allows families to benefit in an immediate way from the results of research.

Learn more about related Salk faculty research

Ursula Bellugi