With recent advances in medical science, there have been many genetic diseases that have come to the attention of doctors and health experts. Of these, a genetic disorder caused by certain defects on chromosome 15 is the Angelman syndrome. Scientists and researchers have suggested many different ways to help cure the disease, but so far there are no treatments backed by evidence and concrete results. Angelman syndrome is known to induce spasmodic movements, as well as a sunny appearance in person. This defect is also called AS
More about the Angelman syndrome — Symptoms and causes
Because the developmental problems associated with the genetic structure are unclear during the early years, the Angelman syndrome is not detected or confirmed at birth or even in childhood. The age of three to seven years is the most common age when most children begin to show obvious symptoms of the disorder.
Even so, Angelman syndrome is not a comprehensible and well understood disorder. This is the main reason why this disorder can only be confirmed when the parents read it or see it in another child, with their own eyes. Many of the symptoms can be attributed to Angelman syndrome in children who have The sad part is that most of these symptoms remain dormant for a long period of time and appear only at a certain age, which makes the discovery of Angelman syndrome a difficult task.
Causes of the disorder
Angelman syndrome is brought about by an abnormal expression of a group of genes on chromosome 15. The researchers found a very small area removed on this chromosome in patients with the syndrome.
This deleted region contains genes that can be activated or deactivated, depending on the parent where the chromosome has been inherited from The gene for this disease is called UBE3A. When this gene is activated, The syndrome does not occur. However, when it is turned off or lost, Angeman syndrome occurs. In patients with Angelman syndrome, the UBE3A gene occurs only on the chromosome given by the mother.
Medical scientists and researchers confirm some of the symptoms that can be attributed to the syndrome in almost all patients. These may include irregular body movements, poor pronunciation and weird behaviors in children. Regardless of the general symptoms and the more ambiguous symptoms, there are other symptoms that may not be noted at first.
These can include abnormalities in the EEG, abnormal development and growth of the baby’s head, seizures and many more All these superficial symptoms show out before the age of three years in children with the disease.
Since no solid methods have been found to prevent or stop the disease, there are no standardized ways to treat or prevent this genetic disease. Most of the curative and preventive measures are aimed at solving the problem at hand and help with the balance and walk.
This is done through the use of adaptive devices and physiotherapy. Language assessment and appropriate speaking skills are important at an early age, which can help improve the child’s situation. Parents of children with this disorder can seek a lot of information, assistance and support from different communities and support groups.