Angelman syndrome

Diagnosis

If your child displays additional symptoms such as seizures, difficulties with mobility and balance, a smaller head size, a joyful disposition, and significant delays in development, especially in language skills, your child’s doctor may suspect Angelman syndrome.

Tests

A blood test almost always yields a conclusive diagnosis. This genetic examination can find chromosomal abnormalities in your child that point to Angelman syndrome.
The chromosome abnormalities linked to Angelman syndrome can be identified using a combination of genetic tests. These exams could examine:

• DNA pattern of the parents. Three of the four known genetic disorders that cause Angelman syndrome are screened for by this test, known as a DNA methylation test.
• Gene mutation. Rarely, a person’s maternal copy of the UBE3A gene may be active but mutated, resulting in Angelman syndrome. A UBE3A gene sequencing test to check for a maternal mutation may be prescribed by your child’s doctor if the findings of a DNA methylation test are normal.
• Missing chromosomes. If any chromosomes are missing, a chromosomal microarray (CMA) can demonstrate this.

Treatment

Currently, there is no known cure for Angelman syndrome. Ongoing research is focused on targeting specific genes for potential treatments. The current approach to therapy revolves around addressing and managing the medical and developmental challenges associated with the syndrome. Typically, you will work closely with a multidisciplinary team of medical specialists to develop a comprehensive treatment plan for your child. The treatment options for Angelman syndrome will depend on the specific signs and symptoms your child experiences and may include:

• Communication and speech therapy, involves picture-based and sign language communication
• Physical therapy assists with mobility
• Behavior therapy assists development by overcoming hyperactivity and a lack of focus
• Anti-seizure medication to manage seizures
• Medications and sleep training to solve sleep problems
• Dietary changes and medications aids with digestive problems include eating problems and constipation