Angelman Syndrome

Diagnosis is based on clinical features and genetic testing:

[Clinical clues]

• Severe developmental delay, particularly in speech
• Happy demeanor with frequent smiling/laughter
• Ataxic gait or tremulous movement
• Seizures (in 80–90% of cases), typically starting before age 3
• Sleep difficulties

[Genetic testing]

• Methylation studies to detect deletions, UPD, imprinting defects
• UBE3A sequencing for mutation analysis
• EEG often shows characteristic patterns, even before seizures begin

There is currently no cure for Angelman Syndrome, but many supportive treatments can improve symptoms and enhance development:

• Antiseizure medications (e.g., valproate, clobazam)
• Physical, occupational, and speech therapy from infancy
• Augmentative and alternative communication (AAC) tools
• Behavioral and sleep management strategies
• Nutritional and feeding support
• Educational planning with special support services

A multidisciplinary approach is essential to address the wide range of medical and developmental needs.