Williams Syndrome (
WS) was first recognised medically in 1961. It is a little known
genetic disorder affecting an estimated 1 in 25,000 live births and is caused by a
spontaneous mutation in
chromosome 7, in the gene responsible for
elastin production. A normal adult who has a WS baby is extremely unlikely to have another child with the disorder, however if a WS adult has a child, that child has a 50% chance of inheriting the syndrome.
WS individuals have mild to severe learning difficulties and a range of psychological and physical abnormalities which when combined are a good indication of WS.
Diagnosis.
In the past, many cases of WS went undiagnosed due to the rarity of the syndrome and the difficulty in spotting it in very young infants - the physical signs are not as pronounced as they are in Down Syndrome. WS babies tend to be irritable, collicky and fail to thrive; they usually have a low birth weight and difficulty feeding. Since the knowledge of the chromosomal abnormality and advances in cytogenetics it has been possible to test for WS by taking a blood sample and checking for the elastin gene (FISH Test ).
Physical characteristics.
Most WS have 'elfin' facial characteristics - a wide mouth, a small flat nose and wide-set eyes, often with a squint. Teeth are usually small, widely spaced and irregular, often requiring dental work. Children are usually small for their age and develop into short adults. Many individuals have heart, circulatory and digestive problems as a result of the defect in the elastin gene. Very high blood pressure is common, as is hypercalcaemia (too much calcium in the blood), both of which are treatable.
Behavioural characteristics.
Young children are often slow to learn to talk, but when they do master it they are sociable, chatter incessantly and quickly develop extremely good linguistic skills. They are easily distracted, often hyperactive, but are very friendly (sometimes innapropriately - especially towards adults), amenable and will always try hard to please. Initially one would think that they are mature beyond their years but closer analysis of their conversation shows a lack of comprehension and inability to grasp certain concepts. The world is very 'black and white' to a Williams individual and they find it hard to compromise and reason. They remain this way all through their lives - articulate but very naive in their understanding of a given situation.
Other symptoms include:
- anxiety attacks, depression and tendency to worry about even simple things
- emotional immaturity - adults over-react to situations whether it is by giggling, crying or being afraid of (to us) the least thing.
- hypersensitivity to sound - a sudden loud noise can reduce an individual to tears or they will have a panic attack; however they frequently have an aptitude for music.
- visuo-spatial difficulties - drawing pictures can be difficult, not only because of the motor skills needed but where to place the objects on the page. Problems with maths.
- fear of heights and uneven surfaces - stairs are sometimes a problem for them
- problems with fine and gross motor control - they have great difficulty with handwriting, for example, or tying shoelaces.
- a tendancy to get 'obsessed' with certain topics, objects or people. They will ask the same question again and again. They do have a good memory however, especially about their favourite topics.
http://nasw.org/finn/ws.html
http://www.williams-syndrome.org.uk/