Angelman Syndrome

Angelman syndrome is a neurogenic disorder. This is a rare condition that only affects about 500,000 people worldwide. It used to be called happy puppet syndrome because of the happy demeanor people who have this disorder have, as well as their jerky movements that is another common symptom. There usually is no sign of Angelman syndrome at birth. The first clue is developmental delays between the ages of 6-12 months.

Signs & Symptoms

The first sign of delays is usually the lack of crawling or babbling. Other signs and symptoms are intellectual disability, no speech to limited speech, difficulty walking, moving or balancing, frequent smiling and laughter, happy and excitable personality, sucking or feeding difficulties, trouble going to sleep and staying asleep.

If your child has Angelman syndrome they may also have seizures that start between ages 2-3 years, stiff jerky movements, a small head, tongue thrusting, hair, skin and eyes that are light colored, flapping arms or other strange movements, sleep problems, and scoliosis.

Though autism spectrum disorder and Angelman disorder share some of the same symptoms and signs, Angelman syndrome is not part of the autism spectrum disorder. Angelman syndrome can also be missed diagnosed as cerebral palsy, Mowat-Wilson syndrome, Christianson syndrome, Pitt-Hopkins syndrome, or Prader-Willi syndrome.

Diagnosis

The first thing that usually brings attention to this condition is the lack of speaking. Your doctor may suggest running some tests to diagnose. There are other conditions that can cause speech delays, but a blood test with a genetic screening can give you a definitive answer.

The tests your doctor may want to run are a paternal DNA pattern test. This test will look for 3 to 4 of the genetic abnormalities that are common in the gene defect associated with Angelman syndrome.

Another test is the Missing chromosome test. This will look for portions of chromosome 15 that may be missing. Another test is a gene mutation test. All of these tests will help identify the type of Angelman syndrome your child has. Types are normal, deletion, mutation, uniparental disomy, imprinting defect, or mosaic.

Causes

The cause of Angelman syndrome is problems with the UBE3A gene. This gene is located on chromosome 15. The most common cause is that part of the maternal copy of UBE3A is missing or damaged.

Another cause is if there are 2 paternal copies instead of one from each parent. Most of the time the gene either has inactive, missing, or structural changes. It can happen spontaneously to any fetus.

There is no way to prevent your child from getting Angelman syndrome.

Treatment

There is no cure for Angelman syndrome. Usually treatment involves a lot of different doctors working together as a team. Your team of doctors may include a Pediatrician, Neurologist, Physical therapy, Occupational therapist, Speech therapist, Behavioral therapist, Gastroenterologist, and a nutritionist.

Early diagnosis and treatment is key for a child’s quality of life with Angelman syndrome.

Anti seizure medication may be used to help stop any seizures your child is experiencing. Physical therapy will help them strengthen their legs, and work on controlling movements. Communication and speech therapy, which may include sign language and picture communication. Behavior therapy to help with the hyperactivity and shorten attention span may also be beneficial. Medications and sleep training to help manage sleep issues. Dietary changes and medications can also be helpful in fixing GI issues like constipation.

Outcomes

The cause of the condition, how severe symptoms are, how early it is diagnosed, and the treatment plan are all factors that can change the prognosis of someone with Angelman syndrome.

Usually a child with Angelman syndrome leads a somewhat normal life. They may need constant care and supervision due to their behavior. With early treatment and coping skills they may be able to learn to control their behavior better. Many children with Angelman syndrome will need help doing daily tasks throughout their life.

Someone with Angelman syndrome will live a near normal life expectancy.

The best thing for caring for someone with Angelman syndrome is to make sure they are getting all the medication they need, going to the therapies, and getting follow up exams when needed.