Angelman Syndrome (AS) is a genetic disorder that affects a person's physical and mental development. It is caused by a mutation on chromosome 15. It is typically diagnosed in early childhood and affects both males and females.
Who is Susceptible to Angelman Syndrome?
Anyone can be susceptible to Angelman Syndrome, however it is more likely to occur in certain groups. People with a family history of AS are more likely to be affected. It is also seen more often in those with a maternal history of the disorder, as it is caused by a gene mutation on the maternally inherited chromosome 15.
Signs & Symptoms of Angelman Syndrome
There are a variety of signs and symptoms associated with Angelman Syndrome. These can include developmental delays, intellectual disability, movement and balance difficulties, and seizures. Other common signs and symptoms include an abnormally happy demeanor, lack of speech, hyperactivity, sleep disturbances, and feeding difficulties.
Diagnosis of Angelman Syndrome
Diagnosis of Angelman Syndrome can be made through a variety of methods. A physical exam and a detailed family history can be used to identify the signs and symptoms of AS. Genetic testing can also be used to identify the gene mutation on chromosome 15. Additionally, a brain scan or an electroencephalogram (EEG) may be performed to look for any neurological abnormalities associated with AS.
Treatment for Angelman Syndrome
There is no cure for Angelman Syndrome, however there are treatments available that can help manage the signs and symptoms of the disorder. These can include physical, occupational, and speech therapy, as well as medications to help control seizures and other symptoms. It is important to speak to a medical professional about the best treatment plan for an individual with Angelman Syndrome.