Definition

Angelman Syndrome: A Rare Neurodevelopmental Condition

Definition

Angelman syndrome is a rare complex neurodevelopmental condition that primarily affects your nervous system.

Symptoms

Symptoms of Angelman syndrome include:

• Intellectual disability
• Poor speech
• Sleep problems
• Ataxia (difficulty with balance and coordination)
• Frequent smiling and laughter
• Seizures
• Increased likeability
• Dental problems

Causes

Angelman syndrome is caused by a change in a gene called UBE3A. This gene is located on the maternal chromosome, which means that it is only inherited from the mother.

The change in the UBE3A gene can happen in several ways:

• In most cases, Angelman syndrome is caused by a deletion of the UBE3A gene on the maternal chromosome.
• In some cases, Angelman syndrome is caused by a mutation in the UBE3A gene.
• In rare cases, Angelman syndrome is caused by a defect in the gene that controls the expression of the UBE3A gene.

Diagnosis

Angelman syndrome is diagnosed based on the child's symptoms and a genetic test.

Treatment

There is no cure for Angelman syndrome, but treatment can help to improve the child's symptoms. Treatment may include:

• Therapy for intellectual disability
• Speech therapy
• Physical therapy
• Occupational therapy
• Medication for seizures