Angelman Syndrome

Diagnosis of Angelman Syndrome

Angelman syndrome is a genetic disorder often suspected when a child shows developmental delays, minimal speech, seizures, or movement difficulties. Diagnosis can be challenging because symptoms overlap with other syndromes.

Medical evaluation

• A healthcare professional will review developmental milestones, speech, movement, balance, and head size.

• Observation of behavioral traits such as frequent laughter or hyperactivity may provide clues.

Genetic testing

• DNA methylation test: Detects three of the four known gene changes that cause Angelman syndrome by analyzing parental DNA patterns.

• Chromosomal microarray (CMA): Identifies missing parts of chromosomes.

• UBE3A gene sequencing: Used if standard tests are normal but suspicion remains, to detect rare maternal gene changes.

Additional tests

• Electroencephalogram (EEG): Measures brain activity and helps assess seizure risk, which is common in Angelman syndrome.

Treatment of Angelman Syndrome

Currently, there is no cure for Angelman syndrome. Treatment focuses on managing symptoms and supporting development.

Medical therapies

• Anti-seizure medications to control seizures.

• Sleep aids or behavioral strategies to manage sleep disturbances.

• Medicines to manage feeding difficulties or constipation.

Therapies for development

• Physical and occupational therapy: Supports walking, movement, and coordination.

• Speech and communication therapy: May include sign language, picture boards, or augmentative devices.

• Behavioral therapy: Helps manage hyperactivity, short attention span, and other behavioral challenges.

Multidisciplinary care

• A team of specialists—including geneticists, neurologists, therapists, and dietitians—works together to create a comprehensive care plan tailored to the child’s needs.

Key Takeaways

• Early diagnosis through genetic testing and EEG can help manage symptoms effectively.

• Treatment focuses on symptom management, developmental support, and quality of life.

• A multidisciplinary care team is essential for optimal outcomes in children with Angelman syndrome.