People with Williams syndrome (WS) have some degree of intellectual disability. However, some can complete academic or vocational school and live independently. Parents can increase the likelihood of semi-independence by teaching self-help skills early. Individualized educational programs may be necessary for those with WS to maximize their potential. In addition, some individuals with WS may develop medical complications that shorten their life spans.
Symptoms
Symptoms of Williams syndrome can include delays in motor development, particularly gross and fine motor skills. It can also lead to delayed development of secondary sexual characteristics. Females may also experience early menstruation and premature breast development. Some of these children also experience chest pain and may experience loss of consciousness or giddiness.
There is no known cure for Williams syndrome. This disorder is a hereditary disorder in which a gene responsible for producing the protein elastin is missing. Without this gene, blood vessels are unable to stretch. Because elastin is necessary for flexible joints and muscles, this condition leads to the narrowing of blood vessels. Treatment for this condition depends on the severity of the symptoms.
One way to improve the symptoms of Williams syndrome is to increase the production of myelin. Many neurodevelopmental disorders are linked to deficits in myelination. Neurologists at Harvard Medical School and Tel Aviv University found that boosting myelin production can improve symptoms of Williams syndrome.
Causes
The most common cause of Williams syndrome is a genetic defect. This condition occurs when one of two genes has a change in its structure. In babies, this gene difference is easily detected using a genetic test. The condition can also be detected through a blood pressure check, an echocardiogram, or an EKG. It is also possible to develop this disorder when the kidneys are not functioning correctly.
Symptoms of Williams syndrome include delayed motor development, particularly in fine and gross motor skills. Many children with the disorder also have mild to moderate mental retardation. In addition, a few may also develop severe learning disabilities. Attention deficit disorder and hyperactivity are also common. Children with the condition also tend to have a hoarse voice.
Diagnosis is crucial in the treatment of this condition. Infants with the condition may experience low birth weight and may not thrive. Symptoms such as abdominal pain, nausea, and vomiting may also occur. In severe cases, the child may be prescribed a corticosteroid drug to prevent hypercalcemia. In most cases, the child’s calcium level will return to normal by the time they reach 12 months. But if the levels are persistent, it can signify that something is wrong with the kidneys. Therefore, children with Williams syndrome should undergo regular checkups to ensure the health of their kidneys and cardiovascular systems. They must also be checked for urinary tract infections.
Treatment
Children with Williams syndrome tend to have a low birth weight and may not thrive. They may also experience vomiting, gagging, and diarrhea. Patients may also have farsightedness or inward deviation of the eyes. As a child grows, calcium levels in the blood usually return to normal, but they may continue to fluctuate throughout childhood and adulthood. Children with Williams syndrome also tend to be very sensitive to sound. They may overreact to high-pitched noises and develop chronic middle ear infections.
Treatment for patients with Williams syndrome depends on the condition’s underlying cause. If the cause is congenital heart disease, a specialized evaluation is necessary. These tests will identify the exact location and severity of the congenital heart defect. In some cases, surgical intervention may be needed. For example, some people may require a shunt for a heart valve to prevent a collapse of the aorta.
Treatment of Williams syndrome can help people with the condition improve their health and life expectancy. The condition may be progressive, but treatment can help with the symptoms and manage the condition over time. Some people with Williams syndrome can live well into their sixties and beyond, but cardiac complications can shorten life expectancy. Your doctor will discuss your prognosis and work with you to develop a treatment plan that will be most beneficial.
Support groups
Whether you or a loved one has been diagnosed with Williams syndrome, there are support groups available in your area. These organizations can provide information on this rare genetic disorder and help you navigate the health care and disability systems. They can also help you obtain unique supplies and learn about the latest treatments. Additionally, they can provide emotional support for those diagnosed with the syndrome.
People with Williams syndrome have wide variations in cognitive, physical, and social traits. Some may have more or fewer characteristics, but common traits are a weakness of the muscles, overly-loose joints, and poor physical coordination. They may also have an overly-extroverted personality. They may have little or no fear of people and social interactions despite their differences.
Genetic counselors are available to help families understand the syndrome and understand its symptoms. They are qualified to provide sensitive support and can explain your options for testing, including prenatal tests. They also have experience with treating and understanding Williams syndrome.