The Common Features of "Williams Syndrome"

People with Williams syndrome, a rare genetic disorder that amplifies social skills while inhibiting math and spatial skills, are likely to respond more to social rewards, like smiles, because their brain's emotional-processing center is more active in response to positive emotions and less so in response to negative ones, according to a new study. Because Williams syndrome is something of a polar opposite of autism, researchers also hope to study brain function in children with autism and Fragile X syndrome.

The common features of Williams syndrome

• - Characteristic facial appearance
• - Heart and blood vessel problems
• - Hypercalcemia (elevated blood calcium levels)
• - Low birth-weight / low weight gain
• - Feeding problems
• - Irritability (colic during infancy)
• - Dental abnormalities
• - Kidney abnormalities
• - Hernias
• - Hyperacusis (sensitive hearing)
• - Musculoskeletal problems
• - Overly friendly (excessively social) personality
• - Developmental delay, learning disabilities and attention deficit

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Williams syndrome is a genomic disorder caused by deletion of a specific segment of chromosome 7. Due to the presence of a number of repeated sequences, this region is prone to errors during replication that can result in deletion of the intervening stretch of the chromosome, which contains approximately 28 genes. The disorder is characterised by typical facial morphology, heart defects and a remarkably consistent profile of cognitive and personality traits. These include mild intellectual disability, with relative strength in language and extreme deficits in visuospatial abilities (including being able to perceive the relationships of objects in 3D space and to construct and mentally manipulate 3D representations). Williams patients are also highly social – often to the point of being over-friendly – empathetic and very talkative. This behaviour may belie a high level of anxiety, however.

One of the most remarkable features of Williams syndrome is the strong attraction of patients for music. Many show a strong interest in music from an early age and greater emotional responses to music. They are also more likely to play a musical instrument, some using music to reduce anxiety. A recent study from Elisabeth Dykens and colleagues adds a new twist to this story. They found in a neuroimaging experiment that in addition to activating the auditory cortex, music also stimulates visual activity and perceptions in Williams patients. In fact, this is not specific to music – non-musical sounds had the same or even stronger effects.