Understanding Angelman Syndrome

What is Angelman Syndrome?

Angelman syndrome (AS) is a rare genetic condition that affects the nervous system and causes developmental delays, intellectual disability, and neurological problems.

Key Characteristics

• Delayed development (typically noticeable by 6-12 months)
• Intellectual disability
• Limited or absent speech
• Movement and balance problems (ataxia)
• Frequent smiling and laughter
• Seizures (in about 80% of cases)
• Sleep difficulties

Genetic Cause

Angelman syndrome occurs due to problems with gene UBE3A on chromosome 15. This can happen in several ways:

• Deletion of the maternal copy
• Paternal uniparental disomy
• Imprinting defects
• UBE3A mutations

Diagnosis

Early Signs

• Developmental delays
• Balance problems
• Hand flapping movements
• Happy demeanor

Diagnostic Methods

1. Genetic testing
2. Clinical evaluation
3. EEG monitoring
4. Family history assessment

Treatment and Management

Medical Care

• Anti-seizure medications
• Physical therapy
• Occupational therapy
• Speech therapy

Support Strategies

• Educational support
• Behavioral interventions
• Sleep management techniques
• Family counseling

Long-term Outlook

While there is no cure for Angelman syndrome, many individuals can:

• Learn to walk
• Develop non-verbal communication methods
• Attend school with support
• Live well into adulthood

Resources and Support

• Genetic counseling
• Support groups
• Educational advocacy
• Medical specialists