What is Angelman Syndrome?

Angelman Syndrome (AS) is a rare neuro-genetic disorder caused by a missing or defective gene in the chromosome 15 derived from the mother. It mainly affects the nervous system. Patients with AS can have developmental, intellectual, and movement disabilities. Despite that, people with AS often smile and laugh frequently, and have excitable personalities. AS was formerly known as the “happy puppet syndrome”. 

Prevalence

AS affects an estimated 1 in 12,000 to 1 in 20,000 people within the general population. It affects males and females equally. However, AS is often misdiagnosed due to shared characteristics with other disorders. Thus, the actual number may be higher.

Symptoms

Some of the most common symptoms include:

Causes

AS is caused by a loss of function from the UBE3A gene. This gene is normally inherited from each parent, but only the gene from the mother is activated in certain parts of the brain. In most patients with AS, there is a missing or defective copy of the UBE3A gene from the mother, leaving the patient with no functional copies of the gene in the brain. This leads to the characteristics of AS that become apparent as the child grows. 

Diagnosis

Doctors may suspect AS if a child has developmental delays and other characteristic symptoms of the disorder. A definitive diagnosis can be made through a genetic test, where identification of abnormal chromosomes can indicate AS. Other genetic tests may also be conducted in conjunction, including:

Current Treatments

At this time, there is no cure for AS. Current treatments involve the management of symptoms and developmental issues including anti-seizure medication, physical, behavioral, and communicative therapies. This illustrates the critical need for new treatment options. To this end, there are clinical trials available. New potential options are being developed, including gene therapy approaches.  
 

Recommended Resources

Angelman Syndrome Foundation

National Organization for Rare Disorders (NORD)

U.S. National Library of Medicine

Mayo Clinic

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