Angelman Syndrome (AS) is a rare genetic disorder that affects the nervous system, causing developmental and neurological problems. It is caused by a mutation or deletion of a specific gene on chromosome 15, called UBE3A, which leads to a deficiency of the UBE3A protein in the brain.
People with Angelman Syndrome typically have delayed development, intellectual disability, and problems with movement and balance. They often have a happy and excitable demeanor, with frequent smiling, laughter, and hand-flapping movements. They may also have sleep problems, seizures, and feeding difficulties.
Angelman Syndrome is typically diagnosed based on clinical features and confirmed by genetic testing. There is no cure for Angelman Syndrome, and treatment focuses on managing symptoms and supporting development. Physical therapy, speech therapy, and occupational therapy can help improve motor function and communication skills. Medications may also be prescribed to control seizures, sleep problems, and behavioral issues. Early intervention and ongoing support can help people with Angelman Syndrome live happy and fulfilling lives.
Some of the treatments that may be recommended for individuals with Angelman Syndrome include:
Physical therapy: Physical therapy can help improve muscle strength, coordination, and balance, as well as prevent contractures and scoliosis.
Speech therapy: Speech therapy can help improve communication skills and address feeding difficulties.
Behavioral therapy: Behavioral therapy can help manage challenging behaviors, such as hyperactivity, impulsivity, and aggression.
Medications: Medications may be prescribed to control seizures, sleep problems, and behavioral issues.
Angelman Syndrome is caused by a mutation or deletion of the UBE3A gene on chromosome 15. This gene provides instructions for making the UBE3A protein, which is important for normal brain function. The UBE3A protein is only active in the brain when it is inherited from the mother; the copy of the gene inherited from the father is normally silenced.
In individuals with Angelman Syndrome, the UBE3A gene on the maternal chromosome is either missing or mutated, leading to a deficiency of the UBE3A protein in the brain. This deficiency affects the functioning of the nervous system, leading to the characteristic features of Angelman Syndrome, such as developmental delay, intellectual disability, movement and balance problems, and a happy and excitable demeanor.