Angelman syndrome

Angelman syndrome is a rare genetic disorder causing developmental disabilities and nerve related complications affects under 200,000 individuals in the United States each year. Angelman syndrome can also be referred to as AS. This condition is named after Dr. Harry Angelman, who first reported the condition in 1965.

Angelman syndrome is usually caused by issues with the Ubiquitin Protein Ligase E3A (UBE3A) Gene that is located in chromosome 15, including either a deletion of in the maternal chromosome or by paternal uniparental disomy. In most cases, Angelman syndrome is rarely hereditary, as it occurs during the formation of reproduction or in early fetal development. Individuals with Angelman syndrome will typically show developmental delays between 6 to 12 months of age. 

Individuals with Angelman syndrome may experience the following: seizures, stiff or jerky movements, sleep problems, scoliosis. Physical features for individuals with AS can include a wider mouth with spaced out teeth, light colored hair, skin, and eyes, small head size with a flatness in the back of the head, etc. Angelman syndrome can also make individuals with the condition have speech impairments, which can be as severe as being nonverbal. Another component of Angelman syndrome is that children with the condition are often smiling and laughing excessively more than normal. However, this can lessen over time as individuals grow older. Now, let’s falsify the myths that are assumed about Angelman Syndrome. 

Myth 1: Angelman syndrome is diagnosed at birth

As it is a more rare genetic condition, it is often hard to diagnose during the first couple years of a child's life that has AS.

Myth 2: Angelman syndrome is the same as Willi-Prader syndrome

While both conditions involve chromosome 15, Angelman Syndrome is caused by the loss of the maternal gene versus Prader-Willi Syndrome being caused by the loss of the maternal gene. Both conditions have different symptoms as a result, hence them being two unique diagnoses.

Myth 3: Individuals with Angelman syndrome have a shorter life expectancy. 

Although this is a rare condition that can be severe, the life expectancy of individuals with Angelman syndrome is typically the same as those without the condition. 

An interesting research report showed that 2/3 of individuals with Angelman syndrome have a high resistance to pain. Another unique feature of AS is that many individuals with the condition have a fascination of water, as it may be seen as a sensory related feature.