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Researchers indicate that even with significant clinical experience, it is difficult to reliably identify Williams syndrome based on facial features alone. There is no cure for Williams syndrome. 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. 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.
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.
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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.
Those with Williams syndrome have a reduced activation in these areas but an increase in the right amygdala and cerebellum. People affected by Williams syndrome are supported by multiple organizations, including the Canadian Association for Williams Syndrome and the Williams Syndrome Registry. Williams syndrome has historically been estimated to occur in roughly 1 in every 20, live births. Williams syndrome was first described by J. Williams and his colleagues, who wrote in of four patients with supravalvular aortic stenosis , mental disability, and facial features including a broad forehead, large chin, low-set, "drooping" cheeks, widely spaced eyes, and a wide-set mouth.
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A year after this report, German physician A. Beuren described three new patients with the same presentation. This led to the syndrome's full original name of Williams-Beuren syndrome, which is still used in some medical publications.
From to , small research reports broadened medical knowledge of this syndrome's cardiovascular problems. Then in , K. Jones and D. Smith conducted a large-scale report on numerous patients with Williams syndrome, ranging in age from infancy to adulthood, and described the behavioral and observable physical symptoms in greater detail than previously recorded.
The adjective "elfin" may have originated to describe the facial features of people with Williams syndrome; before Williams syndrome's scientific cause was understood, people believed that individuals with the syndrome, who have exceptionally charming and kind personalities, had extraordinary, even magical, powers.
This has been proposed to be the origin of the folklore of elves, fairies and other forms of the 'good people' or 'wee folk' present in English folklore. In a review of the symptoms and features of the syndrome, Laskari, Smith and Graham emphasized that some family members of individuals with Williams syndrome typically reject use of terminology such as "elfin", as well as descriptions of social symptoms as "cocktail party syndrome".
Physicians, family members of individuals with Williams syndrome, and Williams syndrome associations alike have called for the curtailment of such terms.
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One notable person with the syndrome is Gabrielle Marion-Rivard , a Canadian actress and singer who won the Canadian Screen Award for Best Actress in for her performance in the film Gabrielle. From Wikipedia, the free encyclopedia. Williams syndrome Other names Williams—Beuren syndrome WBS A 21 and 28 year old who have Williams syndrome  Specialty Medical genetics , pediatrics Symptoms Facial changes, intellectual disability, overly friendly, short  Complications Heart problems , periods of high blood calcium   Duration Lifelong  Causes Genetic  Differential diagnosis Noonan syndrome , fetal alcohol syndrome , DiGeorge syndrome  Treatment Various types of therapy  Prognosis Shorter life expectancy  Frequency 1 in 7, to 1 in 20,  Williams syndrome WS is a genetic disorder that affects many parts of the body.
Williams syndrome genes  . Acta Naturae. Genetics Home Reference. Archived from the original on 20 January Retrieved 22 January This article incorporates text from this source, which is in the public domain. Journal of Child Psychology and Psychiatry. Williams of Williams-Beuren syndrome". Pediatric Radiology. New York Times.
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Archived from the original on Retrieved Clinical Pediatrics. Management of Genetic Syndromes. John Wiley and Sons. Retrieved 7 December Johns Hopkins University Press.
The Journal of Otolaryngology. Bibcode : Sci Journal of Clinical and Experimental Neuropsychology. American Journal of Ophthalmology. Journal of Pediatric Ophthalmology and Strabismus. Although WM is a genetic condition, most cases occur randomly, but if a parent has it, there is a 50 percent chance of passing it on to a child. A physician will look at the clinical features, including facial features and cardiovascular symptoms. However, many of the features are not exclusive to WS, and not all individuals with the condition will have the same symptoms.
A number of genetic tests are available. A special diet that is low in vitamin D may be recommended to reduce or limit calcium levels. According to NORD, calcium levels normally return to normal after 12 months , even without treatment. Children with WM are advised not to take vitamin D supplements, to avoid raising calcium levels. Specialist intervention may be necessary for specific problems, such as cardiovascular symptoms. Some people with WS will have a normal lifespan , but medical challenges may mean that life expectancy is shorter than normal for some.
Around 3 in 4 people with WS will have some degree of intellectual disability, and most will need full-time care. Some people can do regular, paid work. In , researchers investigating the neurological features of WS speculated that the special structures of neurons in people with WS may lead to the super-social aspect of the condition. The authors concluded that studies into WS could help scientists understand what it is that makes humans social beings.
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