Question
My nephew has been diagnosed with Angelman's syndrome. What can you tell me about this condition?
Answer
Angelman's syndrome is a neurological disorder caused by abnormalities in a series of genes on chromosome 15 that regulate production of the protein ubiquitin. Although Angelman's syndrome is typically inherited, it can also result from a spontaneous gene mutation in an individual with no family history of the disease.
Infants with Angelman's syndrome appear normal at birth. But they often begin to have feeding problems at 1 to 2 months of age. More noticeable developmental delays occur by 6 to 12 months.
Signs and symptoms of Angelman's syndrome include:
- Severely impaired speech, with the child using few or no words
- Small head size
- Movement and balance problems, such as a jerky gait or tremors
- Seizures, usually beginning before age 3 years
- Inappropriate or abnormal behavior, such as hyperactivity or excitability, hand flapping, excessive laughing and smiling, short attention span
Angelman's syndrome is typically diagnosed between the ages of 3 and 7 years. There's no cure for this disorder. Treatment is directed at reducing and managing the signs and symptoms and may include:
- Physical therapy and adaptive devices
- Anti-seizure medications
