Angelman Syndrome

What is Angelman Syndrome?

Angelman syndrome is a chromosomal disease that causes neurological problems.

Angelman syndrome was first identified by physician Harold Angelman in 1965.

What Causes Angelman Syndrome?

Angelman syndrome is caused by the deletion or inactivation of a particular series of genes that regulate a protein called (UBE3A) on chromosome 15q11-13. The majority of cases of Angelman syndrome are inherited but others appear to be the result of genetic mutations from unknown causes.

Symptoms of Angelman Syndrome

The extent and variety of the symptoms of Angelman syndrome vary depending on the specific gene(s) involved.

Some common symptoms of Angelman syndrome are:

• flat heads
• feeding problems (infants between 1 and 2 months old)
• speech impairment
• hyperactivity
• epilepsy
• protruding tongues
• unexplained bouts of laughter

Development of Angelman Syndrome

Angelman syndrome is usually not recognized at birth or in infancy. This is true because the developmental problems associated with Angelman syndrome are nonspecific during this time.  The most common age of diagnosis of Angelman syndrome is between three and seven years when the characteristic behaviors and features become most evident.  

Treatments for Angelman Syndrome

Currently, Angelman syndrome cannot be cured. Treatment involves controlling the symptoms.

Common treatments for Angelman syndrome are:

• educational and behavioral interventions (to help with communication, schooling, sleep disturbances, and general behavior)
• physical and occupational therapies
• speech and language interventions
• behavior modification