Williams Syndrome is a genetic disorder that occurs in approximately 1 out of 7,500 births. Although it can occur in families without any history of the syndrome, the likelihood of a parent passing it on to a child is 50%. It is rare for a person with Williams Syndrome to have children.
Children with Williams Syndrome are social and have exceptional verbal abilities, along with a love for music. Adults with Williams Syndrome generally need supportive housing environments that help them live life to the fullest.
Dr. J.C.P. Williams and his colleagues first described Williams Syndrome in 1961 when they were presented with four children with similar facial features and mental abilities. Other doctors confirmed this in new cases in the years following.
Causes of Williams Syndrome
The genetic disorder is due to the deletion of 27 genes from chromosome 7, which leads to the marked characteristics of those suffering from Williams Syndrome. This chromosome contains the gene to create elastin, and the inability to create elastin leads to many of the health problems people with Williams Syndrome suffer from.
This break in the chromosome occurs while the sperm or egg cell is developing. Although prenatal testing is available, there is no way to guard against Williams Syndrome.
There is a variety of physical, developmental, and health symptoms that can indicate Williams Syndrome, particularly in facial appearance. While differences in facial form are extremely common, people with Williams Syndrome may not necessarily present any of the following facial indicators.
Some facial indicators that children with Williams Syndrome have may include:
- Small, upturned nose
- Long upper lip length with open mouth
- Small chin
- Puffiness around the eyes
- Sunken chest
About 75% of Williams Syndrome sufferers have some kind of mental retardation, and parents may also seek a diagnosis based on developmental symptoms, which can include:
- Irritability (colic)
- Feeding problems
- Delayed milestones (however, not in regard to vocabulary)
- Weak fine motor and spatial relations skills
- Overly friendly personality
- Learning disabilities
- Attention deficit disorder
Many health problems also affect those with Williams Syndrome, and some can shorten life expectancy:
- Problems with the heart or blood vessels
- Heart murmurs
- Failure to thrive in infancy
- Dental abnormalities
- Higher rate of diabetes in adults
- Noise-induced hearing loss
Of the physical symptoms, cardiovascular disease is the most life-threatening. The body’s inability to produce elastin creates abnormalities in connective tissue and aortas. Supravalvar aortic stenosis (SVAS) can occur, in which the aorta narrows over time, causing chest pain, shortness of breath, and heart failure if left untreated.
Infants born with heart problems will require corrective surgery within the first year of life, and they will also need lifelong monitoring to maintain good health. Heart problems as early as the first well-baby visit may lead to testing for Williams Syndrome.
A physical examination is not enough to determine if Williams Syndrome is present; diagnosis must be genetic. Two tests can confirm the syndrome: fluorescent in situ hybridization (FISH) and microarray analysis.
In FISH, a blood test probes the genes to find out if the patient has two copies of the elastic gene on each chromosome 7. As many as 98 – 99% of all people with Williams Syndrome will only have one copy of this gene, making it a reliable indicator for diagnosis. The test results are usually returned within two to four weeks, but not every testing facility offers this test.
The microarray analysis involves looking at the DNA microarray to assess the strength of expression of each base pair.
Without a blood test, Williams Syndrome may be misdiagnosed as Rett Syndrome, which occurs exclusively in girls. Williams Syndrome occurs at the same prevalence in both males and females.
Treatment of Williams Syndrome
There is not a cure for Williams Syndrome. In addition to staying under the care of a cardiologist, people with Williams Syndrome should avoid extra calcium and vitamin D. Those with joint stiffness may benefit from physical therapy as well, and exercise is important to counteract the weak muscle tone that can come with Williams Syndrome.
Special education is usually necessary for children with Williams Syndrome. There may be problems with visual-spatial relations, and such children may have trouble locating where they are in relation to space. Though many people with Williams Syndrome do have low IQs, there is a lot of variation in scores. With speech therapy, many go on to exhibit above-average speaking and language skills.
People with Williams Syndrome are highly social and love people, though they may have trouble recognizing faces as well as facial patterns and accompanying social cues. Because of this, ill-intentioned people can take advantage of the kindness of those with Williams Syndrome. For example, young children with Williams Syndrome frequently approach strangers and hug them.
Although extremely verbal, children and adults with this condition are also more likely to suffer from anxiety, phobia and severe social isolation, all of which can result in depression. Behavioral therapy that focuses on how to manage emotions and pick up on social cues can be beneficial. There is a very low rate of aggression with this condition.
One interesting side note is that people with Williams Syndrome do not show a racial bias as compared to non-affected groups; however, they do show the same social bias between genders that non-affected groups do.
Adults with Williams Syndrome can and do hold jobs in the community, but generally not in competitive workplaces, and may live in apartments or homes unassisted. Supported living environments are recommended for some adults with Williams Syndrome who need special assistance learning everyday living activities, such as paying bills, cooking, and caring for themselves medically.
Many people with Williams Syndrome live long, healthy lives and, with the proper therapy—both physical and behavioral—also have lasting relationships with others. Parents of children with Williams Syndrome are sometimes struck by the ability of their children to feel so much empathy for others along with the inability to do simple math equations.