It is caused by a deletion of about 26 genes from the long arm of chromosome 7.^[1] The syndrome was first identified in 1961 by New Zealander J.C.P. Williams^[2][3] and has an estimated prevalence of 1 in 7,500 to 1 in 20,000 births.^[1]

Williams syndrome is caused by the spontaneous deletion of genetic material from the region q11.23 of chromosome 7. The deleted region includes more than 25 genes, and researchers believe that the loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene, which codes for the protein elastin, is associated with the connective-tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis andsupravalvular pulmonary stenosis) found in many people with this syndrome. The insufficient supply of elastin may also be the cause of full cheeks, coarse voice, hernias and bladder diverticulae often found in those with Williams syndrome. Studies suggest that deletion of LIMK1, GTF2I, GTF2IRD1, and perhaps other genes may help explain the characteristic difficulties with visual–spatial tasks. Additionally, there is evidence that the loss of several of these genes, including CLIP2, may contribute to the unique behavioral characteristics, learning disabilities, and other cognitive difficulties seen in Williams syndrome.^[6]

Signs and symptoms[edit]

The most common symptoms of Williams syndrome are mental disability, heart defects, and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy (failure to thrive) and low muscle tone. Individuals with Williams syndrome tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge.^[7]

Most individuals with Williams syndrome are highly verbal relative to their IQ, and are overly sociable, having what has been described as a "cocktail party" type personality.^[8]Individuals with WS hyperfocus on the eyes of others in social engagements.^{[unreliable medical source?][9]}

It is sometimes termed the "opposite of autism", but that idea "does not stand up to scrutiny"; in some respects individuals with Williams syndrome are more sociable than those with autism, but in other areas, those with Williams syndrome have severe impairment in cognitive function.^[10]

 

Treatment[edit]

There is no cure for Williams syndrome, however CureCrowd aims to find out what helps most. Suggestions include avoidance of extra calcium and vitamin D, as well as treating high levels of blood calcium. Blood vessel narrowing can be a significant health problem, and is treated on an individual basis. Physical therapy is helpful to patients with joint stiffness and low muscle tone. Developmental and speech therapy can also help children and increase the success of their social interactions. Other treatments are based on a patient's particular symptoms.^[7]

The American Academy of Pediatrics recommends annual cardiology evaluations for individuals with Williams syndrome. Other recommended assessments include: ophthalmologic evaluations, an examination for inguinal hernia, objective hearing assessment, blood pressure measurement, developmental and growth evaluation, orthopedic assessments on joints, muscle tone, and ongoing feeding and dietary assessments to manage constipation and urinary problems.^[47]

Behavioral treatments have been shown to be effective. In regards to social skills it may be effective to channel their nature by teaching basic skills. Some of these are the appropriate way to approach someone, how and when to socialize in settings such as school or the workplace, and warning of the signs and dangers of exploitation. For the fear that they demonstrate cognitive-behavioral approaches, such as therapy, are the recommended treatment. One of the things to be careful of with this approach is to make sure that the patients charming nature does not mask any underlying feelings.

Perhaps the most effective treatment for those with Williams syndrome is music. Those with Williams syndrome have shown a relative strength in regards to music, albeit only in pitch and rhythm tasks. Not only do they show a strength in the field but also a particular fondness for it. It has been shown that music may help with the internal and external anxiety that these people are more likely to be afflicted with.^[48] Something of note is that the typical person processes music in the superior temporal and middle temporal gyri. Those with Williams syndrome have a reduced activation in these areas but an increase in the right amygdala and cerebellum.

One of the most notable arenas where we see music as a treatment is at the ACM Lifting Lives Music Camp. This is hosted by the Kennedy Center at Vanderbilt University specifically to help those with Williams syndrome. They not only get musical instruction but also interaction with others who have Williams syndrome. Every year music artists are brought in to help with the camp and aid in the campers writing a song of their own. In 2011 the song that the campers wrote, entitled "Music from the Heart" was performed by the campers and Darius Rucker at the Academy of Country Music Awards.