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WILLIAMS' SYNDROME


Williams' syndrome (WS) is a rare congenital condition characterized by distinctive facial features and varying degrees of mental retardation. Around 60% have a congenital heart defect. Some infants have elevated calcium value in blood. Adults with WS are on average slightly shorter than others. The condition is also known as Williams-Beuren Syndrome, Elfin Face Syndrome and Idiopathic infantile hypercalcaemia.

Occurrence

Williams' syndrome occurring in about 1 of 15,000 to 25,000 people. This corresponds to around 2.5 new cases per year in Norway. The gender distribution is fairly smooth, with a slight preponderance of girls. Norwegian Association of Williams' syndrome familiar to approximately 100 people with the syndrome.

Cause

Williams' syndrome caused by an error in the genetic material on chromosome 7 In a majority of individuals with typical features of the condition, you will find that there is a missing piece of chromosome 7 near the so-called elastingenet. It is believed that the congenital heart defect may be due to errors in the production of connective tissue protein, elastin. The special facial features and mental changes that occur in people with WS, is probably with the wrong genes located close to elastingenet on chromosome 7.

Diagnosis

Because the condition can vary widely from person to person, it can sometimes be difficult to determine the diagnosis. When one puts together the various symptoms, you will still often arrive at an "almost sure" diagnosis. At virtually every person that has all the typical features of WS, the diagnosis is confirmed by a blood test that determines that there is a missing piece of chromosome 7.

Heredey

Parents who have a child with WS have very low recurrence risk in subsequent pregnancies. It is only described a handful of families worldwide who have had more than one child with WS. Women and men with WS is believed to be fertile, and could lead the state forward.

Symptoms, signs, course and complications

For many children with Williams' syndrome, the pregnancy lasted slightly longer than normal. Birth weight was low in relation to pregnancy duration.

Infantís period is often marked by eating difficulties with sucking problems, vomiting and constipation. Some have elevated calcium content in the blood. In the first year of life, children can show poor muscle vibration, slow weight gain, eating problems and general mistresses. Congenital heart disease is seen frequently (usually constriction above the flap to the aorta). Renal malformations can also occur.

The characteristic facial features often appear first around the third year of life. The moves consist of a broad forehead, round cheeks, pointed chin, small lower jaw, small nose with wide nostrils, large distance between the nose and upper lip, broad mouth with full - lips and irregular small teeth. Many with WS also have ears with a special form. Eye curves downward to the sides, and in those with blue or green eyes, the eye's iris have a star-shaped pattern. Over half of the children boilers.

Adam apple is often prominent and shoulders downward. Their voice is like a little hoarse and rough. Many have inguinal hernia. Most learn to walk late. Both the mental and motor development is delayed. The degree of mental retardation varies from mild to moderate. IQ is rarely below 50

The children are often hyperactive in childhood. They have a tendency to perceive small details. The child is usually quieter around puberty. Speech development in children with WS is often delayed. When the children eventually learn to speak in sentences, they talk often, "adult". Voice capacity is often better developed than recognition of words. Children with Williams' syndrome often show a striking touch to delight adults. Because of their kindness, curiosity and social orientation, the girls with WS may be more vulnerable to sexual abuse.

Fine motor coordination is often poor. Many are remarkably sensitive to sound and changes in level. Most have difficulty reading and mathematics. Muscle and connective tissue hardens at a young age, and the amount of elastin in the connective tissue is often reduced. Girls with WS often comes in early puberty.

Life prospects of people with WS are generally good, but life expectancy can be affected by serious heart or kidney failure. There is a tendency of developing high blood pressure, many already in adolescence.

Measures and treatment

High calcium content in the blood of the infant period can be treated. Any heart failure controlled and can be treated. Surgery is possible, but is rarely necessary. Blood pressure should be checked regularly. Families with children with Williams' syndrome will need substantial and comprehensive psychological and educational support.

Training and facilitation

Williams' syndrome provides various difficulties in relation to learning, communication, motor skills and social functioning. Low level of generalization required training / education in concrete and natural situations. The pupils' verbal force is a positive resource. Many will have a need for early stimulation and interdisciplinary initiatives, and all will require expert assessment. Individual training plan and individual plan is required. The plans must be characterized by the structure and predictability.

It is important to inform the kindergarten and school in the state. Such information must always be given in cooperation with parents.

Children and adolescents with WS should receive individual counselling in connection with the transitions between nursery, primary and secondary education and employment.

Adult life

 All of Williams' syndrome will have need for individually tailored housing solutions with suitable employment or day activities. On the basis of this knowledge, you can at an early stage start planning adulthood. Rehabilitation plan may take into account the growing needs of life. Good planning is the key to find appropriate activities or tasks for the individual. This can help to increase the well-being and reduce the tendency to depression in adults with Williams' syndrome. 

Norwegian Association of Williams?syndrom

Norwegian Association of Williams' syndrome was established in 1986 and today has approximately 135 members. These are primarily families with a member with Williams' syndrome, but also professionals and others interested in supporting activities can become members. The Association works primarily to strengthen and promote the knowledge of the syndrome, and to ensure that families meet each other to exchange experiences and share knowledge. Each year the association organizes a weekend, where members can meet each other. Some years we invite the entire family, other years we invite parents without the children.

Frambu ?Center for rare disabilities

Norwegian Association of Williams' syndrome is working closely with Frambu, which is a government information center for rare disabilities. Frambus work is directed at selected rare disorders, including Williams' syndrome. One of the center's main tasks is to organize information stay for children, youth and adults with the diagnosis and their immediate family. Every summer arranges Frambu also several two-week health camps for children and adolescents from 10 to 30 years with rare disabilities, including Williams' syndrome.

More information can be obtained form the Norwegian Association for Williams' Syndrome, or directly to Frambu.

Frambu, Sandbakkvn 18, NO-1404 Siggerud
Phone (+47) 64 85 60 00 or fax (+47) 64 85 60 99.
Email: info@frambu.no or Internet: www.frambu.no

 

 
 

 

 

 

 

 

 

 

 

 

 

 

 
 
 
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