Stanford Psychiatry Neuroimaging Laboratory: Williams Syndrome

Williams syndrome is a rare genetic disorder occurring 1 in approximately 25,000 live births. Dr. J.C.P. Williams first defined the syndrome when he noticed that many children entering his hospital with cardiovascular problems shared other traits in common, particularly facial features and an unusually friendly and social demeanor.

Hypercalcemia (high blood calcium levels, possibly producing colic-like symptoms)
Failure to thrive: slow or stunted growth
Delayed development
Widely spaced teeth
Long philtrum

Impaired visuospatial abilities with preserved facial processing
Impaired problem solving
Preserved language abilities
Love of music
AnxietyAttention deficit
Hyperacusis (hypersensitivity to loud noises)
Friendly and outgoing

Williams syndrome is caused by a small genetic deletion on the long arm of chromosome 7, encompassing approximately 25 genes. Because of this deletion, people with Williams syndrome produce smaller amounts of several important proteins. One of these proteins, elastin, is now known to be responsible for several of the cardiovascular and physical characteristics associated with Williams syndrome. Doctors can now perform tests for the gene that encodes elastin in order to confirm the diagnosis of Williams syndrome.

Ongoing research is determining the identity of other genes that are deleted in Williams syndrome and the structure and function of the proteins forwhich they encode. Several other genes have recently been described that may further explain how the symptoms of Williams syndrome arise.

The Williams Syndrome Program Project—Bridging Cognition and Gene—links together cognitive functions, their underlying neurobiological bases, and their molecular genetic underpinnings, using Williams Syndrome (WMS) as a model. At CIBSR, we use high-resolution structural and functional MRI neuroimaging to study neural systems in WMS.

Our recent work has focused on ongoing structural neuroimaging analysis, the completion of scanning for functional MRI experiments, examination of data collected, and the collaborative efforts between the different projects to generate new hypotheses based upon data collected from other study centers. The goal is to synthesize data generated from the different studies (i.e., behavioral data, ERP, genetics, neuroimaging, and neurocytopathology) in understanding the neurobiology of WMS.

In particular, we have focused our structural and functional MRI assessing the neural systems underlying visual and emotion processing as key elements in understanding the neural basis of the unusual cognitive and behavioral features associated with this disorder. These are presented in the publications section.