Angelman syndrome is a neurological disorder that affects the nervous system. It is characterized by severe developmental delays, intellectual disability, and seizures, among other symptoms. People with Angelman syndrome often have difficulty speaking, walking, and interacting with others.
Symptoms of Angelman Syndrome
People with Angelman syndrome typically have intellectual disability, delayed motor skills, and difficulty speaking. Other common symptoms include:
• Seizures
• Sleep disturbances
• Hyperactivity
• Hypopigmentation of the skin
• Abnormal movements of the mouth and tongue
• Flat head (due to decreased muscle tone)
• Abnormal gait
• Delayed or absent speech
• Frequent smiling and laughter
• Feeding difficulties
• Poor coordination
• Poor balance
• Impaired fine motor skills
• Poor eye contact
• Aggressive behavior
• Poor social skills
Causes of Angelman Syndrome
The cause of Angelman syndrome is usually a genetic mutation, although a small percentage of cases are caused by a deletion of a certain region of chromosome 15. This deletion can occur spontaneously or can be inherited from a parent.
Diagnosis of Angelman Syndrome
Angelman syndrome is usually diagnosed through a physical examination, medical history, and genetic testing. A blood test may be used to detect the genetic mutation that causes Angelman syndrome. Genetic counseling may also be recommended.
Treatment of Angelman Syndrome
The treatment of Angelman syndrome is aimed at managing the symptoms and improving the quality of life of the individual. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to control seizures. Nutritional support may also be needed.