Shefali

Williams Syndrome

__ The Basics __ Williams Syndrome is an autosomal genetic disorder. It is present at birth and is known to occur equally both in males and females and in every culture. This particular disorder is not inherited, but occurs randomly during conception. In Williams Syndrome, there is a microdeletion in the 7th chromosome, with 25 genes being affected. Individuals with WS still have all 46 chromosomes, they are just missing that one part of chromosome #7.

__Characteristics/Symptoms__
 * smaller stature
 * the little fingers are slightly bent inward[[image:mccarthyscoolscience/Williams-Syndrome-279x243.jpg align="right" caption="Physical characteristics do not become very prominent until an older age"]]
 * "elfin" look
 * often can see a star-like pattern in the iris of the eyes
 * delayed speech and motor skills
 * impaired visual and spacial relations
 * "milestones" that are usually reached at a young age take slightly longer to develop (ex. walking, talking, toilet training, etc.)
 * learning disabilities
 * after speech is acquired, very talkative and social
 * dental irregularities
 * expressive vocabulary
 * can be labeled as "mentally retarded"
 * may be very talented in music

__How Williams Syndrome is Diagnosed__

There is a technique known as fluorescent in situ hybridization (FISH) that detects the elastin deletion on chromosome #7. Elastin is a protein that makes a smooth muscle. The deletion of this protein causes many of the problems associated with WS, such as narrowing of the arteries. Another test used to diagnose WS is micro-array analysis. This detects the elastin deletion and shows the size of the area deleted. If the patient is clinically diagnosed, then a simple blood test can confirm the diagnosis.

__Life Expectancy__

People with Williams Syndrome are able to live a normal life. The only thing that would shorten life span would be a serious heart condition.

__Statistics__


 * Every 1 in 20,000 people have Williams Syndrome
 * There is a 90% chance that the offspring of two people with Williams Syndrome will also have WS.
 * The chance is lowered to 50% if one parent has Williams Syndrome and the other does not.

__Sarah__ Sarah is the daughter of Mr. Brown, Elkton High's Foundations of Tech teacher. She is 20 years old and has Williams Syndrome. She was born on April 5, 1991 and was diagnosed on October 16, 1992. Unlike most people with WS, she was diagnosed at a young age. For her first diagnosis in 1992, they used her history and conducted a physical to determine what was wrong. In 1994, the doctors confirmed the diagnosis using a tissue test. She has two sisters, both of whom do not have WS, because it is not inherited. Sarah had delayed speech and motor skills as an infant, but now she talks to anybody and everybody. She is extremely social and also has a great memory, which are some of the positive characteristics of WS. "If you have a conversation with her and then don't see her for six months, the next time she sees you, she'll pick up the conversation right where it left off," Mr. Brown told me. This is one of the reasons why people at the retirement home Sarah volunteers at love her. She actually likes to make conversation with them and is a great listener. She is also very aware of other people's feelings. If you seem sad or down, she will pick up that signal and ask what's wrong. "She's awesome. She's the most amazing human being I know," Mr. Brown said, after he talked about her social skills. But for Sarah, things like math and science are hard for her. If you tell her to do something, she won't understand unless you actually show her how to complete the task. Once she knows how to do something, she will remember it and do it correctly. But you cannot tell her to change one little part of what she's doing or else that will mess her up. For example, she gives out meals when she is working at the retirement home. If you show her how to give the correct amount of portions, she will be able to do it perfectly. If one day you tell her that she needs to make the portions smaller, she won't understand and will just do it the way you taught her. Although she may not do as well as you do in school, or may not have a higher IQ than you, things like that don't keep her from living her life. "Sarah has great social skills, but her mental skills aren't as developed. But tell me, what's really more important in life? Sarah knows how to live her life in a way that I don't."

__References__ __Understanding Williams Syndrome: Behavioral Patterns and Interventions__ written by Eleanor Semel and Sue R. Rosner Mr. Brown, Foundations of Tech teacher [|Williams Syndrome Association]