Angelman Syndrome:
What is Angelman Syndrome?
Angelman Syndrome (AS) is a rare genetic neurological disorder that primarily affects the nervous system. It is characterized by impaired development, intellectual and physical disabilities, and distinct facial features. It is caused by a gene mutation or deletion of a section of chromosome 15, which affects the proper development of the brain.
Symptoms of Angelman Syndrome
Common symptoms of Angelman Syndrome include delayed development, intellectual disability, motor deficits, seizures, sleep disturbances, and behavioral issues. Additional symptoms may include difficulty walking, feeding difficulties, a short attention span, and a happy or excitable personality.
Diagnosis of Angelman Syndrome
A diagnosis of Angelman Syndrome can be made through genetic testing and clinical evaluation of the symptoms. Additionally, electroencephalography (EEG) may be used to detect abnormal brain activity.
Treatment of Angelman Syndrome
Since Angelman Syndrome is a genetic disorder, there is no cure. However, treatment is available to help manage the symptoms and improve quality of life. Treatment typically involves physical, occupational, and speech therapy, as well as medications to manage seizures and other symptoms. Additionally, a supportive environment with regular structured activities can help those with Angelman Syndrome reach their fullest potential.
Can You Recover from Angelman Syndrome?
Due to the genetic nature of Angelman Syndrome, it is not possible to recover from the condition. However, with appropriate treatment and support, it is possible to improve quality of life and reach one's fullest potential.