Angelman Syndrome (AS) is a rare genetic disorder that affects approximately 1 in 15,000-20,000 live births. It is estimated that more than 20,000 individuals in the United States alone are affected by AS.
Signs and Symptoms of Angelman Syndrome
Individuals with Angelman Syndrome typically have developmental delays, including delayed gross and fine motor skills. They may also have difficulty with language and communication, as well as seizures. Other common signs and symptoms include a jerky gait, limited or absent speech, exaggerated laughter or smiling, and hand flapping.
Prevalence of Angelman Syndrome
It is estimated that more than 21,000 individuals in the United States alone are affected by AS. Although it appears to affect males and females equally, it is more common in individuals with European ancestry.
Diagnosis of Angelman Syndrome
A diagnosis of Angelman Syndrome is made through clinical evaluation, genetic testing, chromosomal analysis, and brain imaging. A clinical diagnosis can be made if the individual has a combination of the characteristic signs and symptoms. Genetic testing is used to identify the presence of a mutation in the UBE3A gene, which is responsible for AS. Chromosomal analysis is used to check for deletions or rearrangements of the 15th chromosome, which is also associated with AS. Brain imaging can be used to assess the structure and function of the brain, as well as to rule out other potential causes of the symptoms.
Treatment of Angelman Syndrome
There is no cure for Angelman Syndrome, but a variety of treatments can help improve the individual's quality of life. These treatments include physical, occupational, and speech therapy, as well as medications to control seizures. Education and behavior management strategies can also be used to help the individual learn and retain new information.