Angelman syndrome: symptoms, causes and treatment of the hereditary disease

The symptoms of Angelman syndrome

The hereditary disease manifests itself through many different signs. These can vary in severity from child to child:

• Unmotivated laughter: Affected children often laugh excessively, especially for no apparent reason. Laughter fits in stressful situations are also possible.
• Cognitive limitations: Concentration problems and a short attention span are particularly noticeable here.
• Language: Learning language is often difficult for affected children. Many are limited to oral communication for life. Language comprehension, on the other hand, is well developed.
• Movement disorders: Balance problems often occur, the children move stiffly and awkwardly. Motor development is delayed.
• Appearance: Children with Angelman syndrome have a particularly large mouth with small, widely spaced teeth. The head is comparatively small, the spine is crooked (scoliosis).
• Central nervous system: Epileptic seizures are common, especially in early childhood . These will subside later.

Causes of Angelman Syndrome

Angelman Syndrome is a hereditary disease, and a defect on chromosome 15 is responsible for the symptoms observed. The loss of a section of DNA called the maternal ubiquitin protein ligase gene (UBE3A) is the most common defect.

The disease affects both girls and boys. On average, one in 15,000 to 20,000 children is born with Angelman syndrome. Compared to healthy people, people with the disease do not have a reduced life expectancy.