Williams Syndrome Association of Ireland
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Facts about Williams Syndrome
Williams Syndrome.... is a rare genetic condition (estimated to occur in 1/20,000 births) which causes medical and developmental problems. Williams
syndrome is a genetic disorder that was first recognised as a distinct condition
in 1961. It is present at birth, and affects males and females equally. It can
occur in all ethnic groups and has been identified in countries throughout the
world. What
are the Common Features
of Williams Syndrome? Characteristic facial
appearance Most young
children with Williams syndrome are described as having similar facial features.
These features which tend to be recognised by only a trained geneticist or birth
defects specialist, include a small upturned nose, long philtrum (upper lip
length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue
and green-eyed children with Williams syndrome can have a prominent
"starburst" or white lacy pattern on their iris. Facial features
become more apparent with age. Heart and blood vessel
problems The majority
of individuals with Williams syndrome have some type of heart or blood vessel
problem. Typically, there is narrowing in the aorta (producing supravalvular
aortic stenosis - SVAS), or narrowing in the pulmonary arteries. There is a
broad range in the degree of narrowing, ranging from trivial to severe
(requiring surgical correction of the defect). Since there is an increased risk
for development of blood vessel narrowing or high blood pressure over time,
periodic monitoring of cardiac status is necessary. Hypercalcaemia (elevated blood calcium levels) Some young
children with Williams syndrome have elevations in their blood calcium level.
The true frequency and cause of this problem is unknown. When hypercalcaemia is
present, it can cause extreme irritability or "colic-like" symptoms.
Occasionally, dietary or medical treatment is needed. In most cases, the problem
resolves on its own during childhood, but lifelong abnormality in calcium or
Vitamin D metabolism may exist and should be monitored. Low birth-weight / low weight
gain Most
children with Williams syndrome have a slightly lower birth-weight than their
brothers or sisters. Slow weight gain, especially during the first several years
of life, is also a common problem and many children are diagnosed as
"failure to thrive". Adult stature is slightly smaller than average.
Many infants
and young children have feeding problems. These problems have been linked to low
muscle tone, severe gag reflex, poor suck/swallow, tactile defensiveness etc.
Feeding difficulties tend to resolve as the children get older. Irritability (colic during
infancy) Many infants with Williams syndrome have an extended period of colic or irritability. This typically lasts from 4 to 10 months of age, then resolves. It is sometimes attributed to hypercalcaemia. Abnormal sleep patterns with delayed acquisition of sleeping through the night may be associated with the colic. Slightly small, widely spaced teeth are common in children with Williams syndrome. They also may have a variety of abnormalities of occlusion (bite), tooth shape or appearance. Most of these dental changes are readily amenable to orthodontic correction. Back There is a
slightly increased frequency of problems with kidney structure and/or function. Inguinal
(groin) and umbilical hernias are more common in Williams syndrome than in the
general population.
Hyperacusis (sensitive
hearing) Children
with Williams syndrome often have more sensitive hearing than other children.
Certain frequencies or noise levels can be painful an/or startling to the
individual. This condition often improves with age. Young
children with Williams syndrome often have low muscle tone and joint laxity. As
the children get older, joint stiffness (contractures) may develop. Physical
therapy is very helpful in improving muscle tone, strength and joint range of
motion. Overly friendly (excessively
social) personality Individuals with Williams syndrome have a very endearing personality. They have a unique strength in their expressive language skills, and are extremely polite. They are typically unafraid of strangers and show a greater interest in contact with adults than with their peers. Back Developmental
delay, learning
disabilities and attention deficit Most people
with Williams syndrome have some degree of intellectual handicap. Young children
with Williams syndrome often experience developmental delays; milestones such as
walking, talking and toilet training are often achieved somewhat later than is
considered normal. Distractibility is a common problem in mid-childhood, which
appears to get better as the children get older. Older
children and adults with Williams syndrome often demonstrate intellectual
"strengths and weaknesses." There are some intellectual areas (such as
speech, long term memory, and social skills) in which performance is quite
strong, while other intellectual areas (such as fine motor and spatial
relations) are significantly deficient. What is the cause of
Williams Syndrome? Williams
syndrome is not caused by anything the parents did or did not do either before
or during pregnancy. We know that most individuals with Williams syndrome are
missing genetic material on chromosome #7 including the gene that makes the
protein called elastin (a protein which provides strength and elasticity to
vessel walls.) It is likely that the elastin gene deletion accounts for many of
the physical features of Williams syndrome. Some medical and developmental
problems are probably caused by deletions of additional genetic material near
the elastin gene on chromosome #7. The extent of these deletions may vary among
individuals. In most families the child with Williams syndrome is the only one
to have the condition in his or her entire extended family. However, the
individual with Williams syndrome has a 50% chance of passing the disorder on to
each of his or her children. How is Williams Syndrome
diagnosed? Many
individuals with Williams syndrome remain undiagnosed or are diagnosed at a
relatively late age. This is of concern since individuals with Williams syndrome
can have significant and possibly progressive medical problems. When the
characteristics of Williams syndrome are recognised, referral to a clinical
geneticist for further diagnostic evaluation is appropriate. The clinical
diagnosis can be confirmed by a blood test. The technique known as fluorescent
in situ hybridisation (FISH), a diagnostic test of the DNA, detects the elastin
deletion on chromosome #7 in 95% to 98% of individuals with Williams syndrome. Are medical problems
frequent in Williams Syndrome? Williams
syndrome can affect many different body organs. However, it is important to
remember that no two individuals with Williams syndrome have exactly the same
problems. Since some of the medical problems can develop over time, it is
important that individuals with Williams syndrome receive ongoing medical
monitoring and supervision. Despite the possibility of medical problems, most
children and adults with Williams syndrome are healthy and lead active, full
lives. What is the outlook for
adults with Williams Syndrome? The vast
majority of adults with Williams syndrome master self-help skills and complete
academic and/or vocational school. They are employed in a variety of settings
(ranging from supervised to independent jobs). Many adults with Williams
syndrome live with their parents; others live in supervised apartments and some
are able to live on their own. Who should care for
individuals with Williams Syndrome? Given the
complex nature of many of the problems found in individuals with Williams
syndrome, many health and educational professionals should be involved in their
care. Regular monitoring for potential medical problems is necessary and should
be done by a physician familiar with the broad array of problems that can be
seen in Williams syndrome. Due to the intellectual "strengths and weaknesses," the expertise of developmental psychologists, speech and language pathologists, physical and occupational therapists, etc. who are familiar with Williams syndrome is recommended. Back The Williams
Syndrome Association of Ireland (WSAI) provides members with support through
annual conferences, social gatherings and regular newsletters. It also works to
make the medical profession more aware of Williams syndrome. To receive
membership information and an information pack on Williams syndrome, contact:- Williams Syndrome Association of Ireland, (Registered Charity Number - CHY 9654) 13
Kilgarve Park, Ballinasloe, Co.
Galway. Ireland
Tel:
090 - 9643247 Fax:
090 - 9644638 email: wsai@eircom.net
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Last modified: November 17, 2007 |
