Angelman syndrome is a genetic disorder caused by problems with the UBE3A gene on chromosome 15. Most cases occur when this gene is missing or not functioning properly.

Common Characteristics:

• Intellectual disability
• Delayed or absent speech
• Jerky, puppet-like movements
• Happy, social demeanor
• Balance and coordination problems
• Hyperactive behavior
• Small head size (microcephaly)
• Epilepsy (in 80% of cases)

Physical Features:

• Flattened back of head
• Deep-set eyes
• Wide, smiling mouth
• Prominent jaw
• Widely spaced teeth
• Light pigmentation of hair, skin, and eyes

Causes:

• Missing UBE3A gene on maternal chromosome 15 (68% of cases)
• UBE3A gene mutation (11% of cases)
• Inheriting two copies of chromosome 15 from father (7% of cases)
• Other chromosome 15 deletions (3% of cases)
• Unknown causes (11% of cases)

Diagnosis:

• Usually occurs between ages 2-5
• Based on clinical features and DNA testing
• May be mistaken for autism but differs in social behavior

Treatment Options:

• Speech therapy
• Physical therapy
• Occupational therapy
• Special education
• Behavior modification
• Anti-epileptic medication
• Communication therapy
• Social skills training

Important Notes:

• Not a degenerative disease
• Normal life expectancy
• No cure currently available
• Early intervention is crucial
• Affects 1 in 10,000-20,000 children

Support and Management:

• Genetic counseling
• Family therapy
• Support groups
• Respite care
• Special education programs
• Regular medical monitoring

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