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Williams Syndrome (WS) is a
rare genetic disorder characterized by mild to
moderate mental retardation or learning
difficulties, a distinctive facial appearance,
and a unique personality that combines
overfriendliness and high levels of empathy with
anxiety. The most significant medical problem
associated with WS is cardiovascular disease
caused by narrowed arteries. WS is also
associated with elevated blood calcium levels in
infancy. A random genetic mutation (deletion of
a small piece of chromosome 7), rather than
inheritance, most often causes the
disorder.
However, individuals who have WS have a 50
percent chance of passing it on if they decide
to have children.
The characteristic facial features
of WS include puffiness around the eyes, a short
nose with a broad nasal tip, wide mouth, full
cheeks, full lips, and a small chin. People with
WS are also likely to have a long neck, sloping
shoulders, short stature, limited mobility in
their joints, and curvature of the spine.
Some individuals with WS have a star-like
pattern in the iris of their eyes.
Infants with WS are often irritable and colicky,
with feeding problems that keep them from
gaining weight.
Chronic abdominal pain is common in adolescents
and adults. By age 30, the majority of
individuals with WS have diabetes or
pre-diabetes and mild to moderate sensorineural
hearing loss (a form of deafness due to
disturbed function of the auditory nerve).
For some people, hearing loss may begin as early
as late childhood.
WS also is associated with a
characteristic “cognitive profile” of mental
strengths and weaknesses composed of strengths
in verbal short-term memory and language,
combined with severe weakness in visuospatial
construction (the skills used to copy patterns,
draw, or write). Within language, the strongest
skills are typically in concrete, practical
vocabulary, which in many cases is in the low
average to average range for the general
population. Abstract or conceptual-relational
vocabulary is much more limited. Most older
children and adults with WS speak fluently and
use good grammar.
More than 50% of children with WS have attention
deficit disorders (ADD or ADHD), and about 50%
have specific phobias, such as a fear of loud
noises. The majority of individuals with WS
worry excessively.
Is there any
treatment?
There is no
cure for Williams syndrome, nor is there a
standard course of treatment. Because WS
is an uncommon and complex disorder,
multidisciplinary clinics have been established
at several centers in the United States
. Treatments are
based on an individual’s particular
symptoms. People with WS require regular
cardiovascular monitoring for potential medical
problems, such as symptomatic narrowing of the
blood vessels, high blood pressure, and heart
failure
What is the
prognosis?
The
prognosis for individuals with WS varies. Some
degree of mental retardation is found in most
people with the disorder. Some
adults are able to function independently,
complete academic or vocational school, and live
in supervised homes or on their own; most live
with a caregiver. Parents can increase the
likelihood that their child will be able to live
semi-independently by teaching self-help skills
early. Early intervention and individualized
educational programs designed with the distinct
cognitive and personality profiles of WS in mind
also help individuals maximize their potential.
Medical complications associated with the
disorder may shorten the lifespans of some
individuals with WS.
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