Angelman syndrome (AS) is a genetic disorder that delays development and causes neurological problems and seizures. Currently, there is no cure for AS, and available treatments focus on controlling seizures and managing the physical and behavioral symptoms of the disease.
Epilepsy is commonly associated with Angelman syndrome, causing seizures, jerky movements, and prolonged periods of unresponsiveness known as nonconvulsive status epilepticus (NCSE).
In many Angelman syndrome patients, seizures often improve by adolescence.
Physical and occupational therapy
Angelman syndrome patients can experience problems with walking and movement.
Physiotherapy can identify problem areas and introduce a tailored exercise plan that can, for example, improve motor skills, strength, posture, and balance.
An occupational or physical therapist can identify whether braces are needed, and help to order and to fit them. In some patients, a back brace may be needed to prevent the spine from curving excessively (known as scoliosis) during development. Ankle and foot braces may help with walking difficulties.
In severe cases of scoliosis, where the spine is significantly curved and has the potential to cause damage to organs or is causing significant pain, surgery may be required.
Angelman syndrome is often associated with a lack of speech development. Speech and language therapists should be involved from an early stage to assess speech development in the child and help identify what approaches will benefit them the most. This can include learning sign language or introducing augmentative communication aids such as picture cards or Dynavox.
Angelman syndrome can cause a number of behavioral issues, including hyperactivity, aggressive behavior, sleep disorders, self-injury, and a fascination with water. Behavioral therapy may be able to help address and cope with these issues.
Acid reflux (or gastroesophageal reflux) can be common in Angelman syndrome. This can be treated by maintaining an upright position during and after eating, or with medication such as Gaviscon and ranitidine. In rare and extreme cases, a type of surgery called fundoplication may be required.
Note: Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.