As reported in Angelman Syndrome News, the Angelman Syndrome Foundation (ASF) now has an international network of Angelman Syndrome Clinics staffed with Angelman Syndrome (AS) experts. New sites include the Children’s Hospital of Eastern Ontario (CHEO) in Ottawa, Canada, and the Edmond and Lilly Safra Children’s Hospital of the Sheba Medical Center near Tel Aviv, Israel. These additions bring the number of clinic locations globally to 10, with eight in the United States. Collectively, the clinics have seen over 500 patients.
The ASF founded the Angelman Syndrome Clinic Network to provide AS patients comprehensive medical care throughout their lives. Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, speaking problems, balance and movement problems, seizures, and sleep problems. Children usually have a happy personality and have an interest in water. The symptoms generally become noticeable by one year of age.
Angelman syndrome is typically due to a new mutation rather than one inherited from a person’s parents. Angelman syndrome is due to a lack of function of part of chromosome 15 inherited from a person’s mother. Most of the time, it is due to a deletion or mutation of the UBE3A gene on that chromosome. Occasionally, it is due to inheriting two copies of chromosome 15 from a person’s father and none from their mother. As the father’s versions are inactivated by a process known as genomic imprinting, no functional version of the gene remains. Diagnosis is based on symptoms and possibly genetic testing.