Williams Syndrome is one of the most serious and rare genetic disorders that affects 1 in 10,000 children worldwide. This syndrome can affect both women and men. The sufferance of parents who bring children into the world with such problems cannot be expressed in words; however they also deserve a chance, which is why a lot of associations that come to the aid of both parents and children suffering of this terrible syndrome have been founded.
Williams syndrome (or the Beuren Williams syndrome) is a genetic anomaly, researchers having shown that conditions do not have to necessarily exist within the family history. But if a family member suffers from this syndrome, the chances of hereditary transmission are of 50%.
Williams Syndrome is a neurological disorder which implies an underdevelopment of the brain and central nervous system. This serious disorder of brain capacity evolution has visible consequences on the person affected, in that, besides the fact that physical appearance is influenced, health problems are soon to follow. Moreover, this syndrome affects learning, memory and concentration abilities, being characterized by retardation. This syndrome was identified in 1961 by doctor JCP Williams, hence its name.
Causes of Williams Syndrome
Williams Syndrome can be traced since pregnancy, specifically in the fourth month. In this case, the mother is forced to take the right decision based on medical indications. The cause of this rare syndrome is the destruction of a DNA molecule when sperm fertilizes an egg. At the same time it is very unlikely for a child to inherit this syndrome from parents, as it is recommendable that those who suffer from the Williams syndrome should not have any children.
Characteristics and symptoms of Williams syndrome
Being such a rare condition, most often, Williams syndrome is unfortunately discovered after birth, in the baby’s first year of life. But thanks to technology development, the syndrome may now be discovered during the fourth month of pregnancy. During pregnancy, the fetus can be diagnosed with Williams syndrome by a DNA test or amniocentesis.
If the syndrome is not identified during pregnancy, symptoms will begin to appear in the child’s first year of life. Williams syndrome is characterized by a number of diseases and serious health problems. Most of the times, children born with this syndrome have very little birth weight and reduced growth rate because of nourishment difficulties, poor muscular tonus, a tendency to choke and swallowing problems. Only with age, do these issues disappear. Besides eating problems, children suffering from Williams syndrome also present sleep deficiencies.
One of the most common symptoms for those suffering from this syndrome is heart and circulatory system conditions. Therefore, children who have problems like these in the first year of life are suspects of Williams syndrome. Williams syndrome will always manifest heart disease.
People with Williams syndrome have distinctive facial features. They are characterized by a snub nose, full lips, small chin and wide forehead. The cheeks are full and there are small bumps under the eyes. Neither is dentition normal, the teeth being rare and small, featuring most of times and occlusions. There may be eye problems, including strabismus. The facial features become accentuated over time.
Williams syndrome is characterized by the presence of diabetes, in most cases in people over 21 years, and of digestive disorders. Hypocalcaemia is specific to this syndrome; therefore it is not recommended calcium administration. Children suffering from this syndrome present a sensitive hearing, but this problem may improve over time.
The nervous system is also affected. People with Williams syndrome show a light to medium retardation. Even if these people have extraordinary storage capacities, they cannot learn and cannot easily express. There are situations in which patients developed a special interest in a particular field, such as music or drawing. Those who suffer from this syndrome are very sociable, friendly and overly polite.
How to cure Williams syndrome
Unfortunately, there are no means to fully cure Williams syndrome. Diseases presented above can be treated medically, but there are numerous associations specifically established to assist those suffering from this syndrome, but also their families. Early detection of this syndrome is an advantage. There are lots of therapies for both children and adults which every time succeed in improving patients’ lives. Speech therapy, physical therapy and behavioral therapies have an important role in relieving the problems caused by this syndrome. Special courses are also carried out because these individuals have the right to education and integration in the society.