Galactic Poolhall

This information is from the Lili Claire Foundation.

Williams Syndrome is named after a New Zealand cardiologist who, in 1956, described a series of patients with very similar distinctive physical and intellectual characteristics. It is a rare congenital disorder caused by the deletion of elastin and approximately twenty other genes on chromosome #7, and is characterized by a striking mix of physical and developmental characteristics. It affects males and females equally, and occurs in all ethnic groups. There is no known cure, or standard course of treatment. However, when Williams Syndrome is correctly diagnosed, it can be treated.

While the severity of symptoms varies among patients, common physical characteristics of Williams syndrome include an excessively impulsive and outgoing personality, intellectual developmental delay and learning disabilities, mental retardation or attention deficit disorder. However, older children with Williams Syndrome often demonstrate intellectual “strengths,” along with these developmental “weaknesses.” People with Williams Syndrome display some highly developed intellectual areas such as verbal acuity, which often make them wonderful storytellers. They often have a striking musical ability, relatively good reading and phonics skills, and extremely strong social skills (where they may surpass the abilities of a child with normal abilities and intellect). Unfortunately, because of their remarkable verbal and social abilities, educators are often misled into thinking that these children have better reasoning skills than they actually possess, and in many cases these children do not get the academic support they need.

If you suspect your child or someone you know may have Williams syndrome (WS), you can ask your doctor for a blood test to confirm a clinical diagnosis. A special technique known as fluorescent in situ hybridization (FISH) can determine whether there is a deletion of the elastin gene on chromosome #7. A positive diagnosis of WS will be confirmed if the patient only has one copy of the elastin gene instead of the standard two copies. About 95% to 98% of people with WS have this elastin deletion. The FISH test is available at major hospitals and genetics laboratories around the country, but it is not a routine test. To obtain a FISH test, call a hospital or laboratory in advance to find out if they can perform one. If they do not, they may be able to recommend a laboratory that does. Once a test date has been set up, the laboratory will need 5 ml of blood drawn in a Sodium heparin tube. Results are usually available within 2-4 weeks.

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