Angelman's syndrome is a genetic disease that affects the central nervous system. It causes serious delays in development and permanent neurological damage. Children who suffer from it seem healthy at birth and the disease manifests in the 6 to 12 months.

At first, the baby suffering from Angelman's syndrome shows feeding problems and developmental delays. Between 2 and 3 years, the first epileptic seizures often occur. The child is hyperactive, with a low threshold of attention. Problems with him also in adulthood, sometimes accompanied by an abnormal curvature of the spine. Despite all these problems, Angelman sufferers have an average life expectancy.

The disease is caused by a defect in the maternal copy of the UBE3A gene. The gene contains information on a key enzyme for protein degradation. Its malfunction would be enough to cause the symptoms of the syndrome. In most cases, genetic abnormality is sporadic, but there are also cases of inheritance.

For the diagnosis, specific genetic tests are used to determine the presence or absence of chromosome abnormalities. Once the disease is confirmed, it is symptomatic. Epileptic attacks with specific drugs are monitored and physical and occupational activity is promoted. All this helps to improve the quality of life of patients.

Source: telethon.it