Williams syndrome is a genetic condition that is present at birth and
can affect anyone. It is characterized by medical problems, including
cardiovascular disease, developmental delays, and learning
disabilities. These occur side by side with striking verbal abilities,
highly social personalities and an affinity for music.
WS affects 1 in 10,000 people worldwide – an estimated 20,000 to 30,000
people in the United States. It is known to occur equally in both males
and females and in every culture.
Unlike disorders that can make connecting with your child difficult,
children with WS tend to be social, friendly and endearing. Parents
often say that the joy and perspective of a child with WS brings into their
lives had been unimaginable.
But there are major struggles as well. Many babies have
life-threatening cardiovascular problems. Children with WS need costly
and ongoing medical care, and early interventions (such as speech or
occupational therapy) that may not be covered by insurance or state
funding. As they grow, they struggle with things like spatial
relations, numbers and abstract reasoning, which can make daily tasks a
challenge. And as adults, most people with WS need supportive housing to
live to their fullest potential. Many adults with WS contribute to
their communities as volunteers or paid employees, for example working
at senior homes and libraries or as store greeters or veterinary aides.
Just as important are opportunities for social interaction. As people
with WS mature – beyond the structure of school and family activities –
they often experience intense isolation which can lead to depression.
They are extremely sociable and experience the normal need to connect
with others; however people with Williams syndrome often don’t process
nuanced social cues and this makes it difficult to form lasting
relationships.
Common features of Williams syndrome include:
Characteristic facial appearance
Most young children with Williams syndrome are described as having
similar facial features. These features 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 stenos is 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.
Hypercalcemia (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 hypercalcemia 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 / slow 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.
Feeding problems
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 hypercalcemia. Abnormal sleep
patterns with delayed acquisition of sleeping through the night may be
associated with the colic.
Dental abnormalities
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.
Kidney abnormalities
There is a slightly increased frequency of problems with kidney structure and/or function.
Hernias
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.
Musculoskeletal problems
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.
Developmental delay, learning disabilities and attention deficit disorder
Most people with Williams syndrome mild to severe learning disabilities
and cognitive challenges. 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. Distractability is a common problem in mid-childhood, which can
improve 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) show significant weakness.
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