International Angelman Day: Awareness of the rare neurogenetic condition known as Angelman syndrome

International Angelman Day, which is observed annually on February 15, raises awareness of the rare neurogenetic condition known as Angelman syndrome. The day also motivates us to learn more about this ailment and the requirement for additional study 

The first International Angelman Day was held in 2013. The Angelman Syndrome Foundation organizes and promotes the day 

What is Angelman syndrome?

Angelman syndrome is a rare disease occurs when the UBE3A gene in the 15th chromosome loses function. This particular chromosome is derived from the mother.

The disease affects 1 in 12,000 to 20,000 people around the world. Most diagnoses occur between the ages of 6 to12 months. It’s during these ages that the symptoms become most noticeable.

Symptoms

The symptoms of Angelman syndrome vary from child to child. A lot of these symptoms are similar to those of cerebral palsy, autism, and Prader-Willi syndrome. Due to these similarities, many children with Angelman syndrome often receive a misdiagnosis.

Common symptoms of Angelman syndrome include:

Delay in developmental milestones

Limited speech

Unprovoked laughter and smiling

Hyperactivity

Short attention span

Trouble sleeping or needing less sleep

Limited mobility

Some children with Angelman syndrome have seizures, while others have decreased muscle tone or exaggerated reflex responses. Many babies experience feeding problems and swallowing difficulties. Some symptoms of Angelman syndrome improve as one gets older. However, those with this rare disease need lifelong care.

History

The syndrome was first diecovered in 1965 by English physician Dr Harry Angelman. He published a research paper that first described children with symptoms. Because it was so rare, many physicians doubted its existence. Due to the unprovoked smiling and laughter of children with the disease, Dr Angelman named the condition “Happy Puppet Syndrome.”

In 1982, Dr Charles Williams discovered that the disease was more prevalent than previously thought. He, along with Dr Jaime Frias, proposed that the condition be renamed Angelman syndrome. In 1986, Dr Williams started the Angelman Research Group (ARG), which later became the Angelman Syndrome Foundation