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Take Aways

  • Angelman Syndrome (AS) is a rare neurological disorder.
  • The condition causes seizures, developmental delays, and speech impairment.
  • Children with AS smile and laugh a lot but usually can't speak.
  • People with AS usually have a normal lifespan, but they need a variety of treatments to help them cope with the condition.

Angelman Syndrome (AS) is a rare neurologic disorder that causes developmental delays, seizures, and abnormal movements. People who have the syndrome tend to laugh and smile frequently, but they usually have delayed speech. The condition is also associated with hand-flapping movements, hyperactivity, and a reduced need for sleep. AS is frequently misdiagnosed as autism or cerebral palsy. AS is a genetic disorder, though it is not usually inherited; instead, it most often occurs as a result of a spontaneous mutation to a gene on chromosome 15.

Although firm statistics are hard to come by, researchers believe that Angelman Syndrome affects between 1 in 10,000 births and 1 in 15,000 births. Symptoms are rarely apparent at birth, but some infants with AS have trouble sucking and swallowing. Parents more often notice red flags starting around 6 months of age, as babies with AS usually don’t coo or babble and have difficulty supporting their heads. Children with AS begin walking later than others, and they experience balance and gait problems.

Adults with AS typically have a normal lifespan, but they are rarely able to live independently or hold jobs (unless supervised). There is currently no cure, but many treatments can help with the associated medical problems. These include physical therapy, speech therapy, and anticonvulsant medications to control seizures.

AS research is ongoing, but a lack of funding for this rare disorder is holding it back. According to the Foundation for Angelman Syndrome Therapeutics, a cure for AS could potentially even pave the way for curing other more common disorders such as autism and Alzheimer’s disease.

References

  1. Angelman Syndrome Foundation.
  2. Boston Children's Hospital. Angelman Syndrome.
  3. Foundation for Angelman Syndrome Therapeutics.
  4. National Institutes of Health Genetics Home Reference. Angelman Syndrome.

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