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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.
Infant’s 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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