Answers to questions families often have about caring for their child with Angelman syndrome

Angelman syndrome (AS) is a genetic disorder. It causes severe developmental delay, intellectual disability, and often causes seizures. People with AS commonly laugh and smile frequently.

People with AS are born without a working copy of the UBE3A gene from their mother’s side. This usually happens for no apparent reason and does not happen again, but some forms of AS can be inherited. Researchers do not know yet how problems with this gene cause AS. See Genetics of Angelman Syndrome for more information about the genetic causes of AS.

AS occurs in about 1 in 15,000 live births.

Signs and symptoms of AS include:

• Developmental delays
• Intellectual disability
• Frequent smiling and laughing
• Decreased communication skills
• Hyperactivity
• A happy personality
• Seizures
• Severe constipation
• Anxiety
• Severe gross motor delay
• Sleep problems or a decreased need for sleep
• Scoliosis (curved spine)
• Ataxia (poor muscle control)
• Fascination or obsession with water
• Vision problems

More information is available in our Angelman Syndrome module in the Diagnostic Criteria section.

A doctor may suspect AS if your child has signs and symptoms of the disorder, such as developmental delays. Genetic testing is used to identify problems with the UBE3A gene, and confirms the diagnosis for about 90% of people with AS.

People who have signs and symptoms of the disorder but whose genetic testing is negative may still be given a clinical diagnosis of AS. However, other conditions may have similar features that could lead to a wrong diagnosis. See Angelman Syndrome: Common Misdiagnoses for more information.

While children with AS will always have intellectual disability and require supportive care, they should have normal life expectancies. Most children with AS will have seizures that will need antiepileptic medications or dietary changes. They are at risk for early death due to seizures, aspiration pneumonia, and chronic lung disease.

The risk to siblings (brothers and sisters) of a child with AS depends on the genetic cause of the loss of UBE3A function: often less than 1% risk for children with AS with a deletion or paternal uniparental disomy (UPD), and as high as 50% for children with AS with an intellectual disability or a mutation of UBE3A (see Genetics of Angelman Syndrome for more information about genetic causes of AS).

Some women who have had a child with AS choose to get genetic testing to find out if they are a carrier before having more children. Talk with a genetic counselor if you are concerned about having another child with AS.

There is no treatment for the underlying health issue. Children with AS commonly have developmental delays and should get speech/language, occupational, vision, and physical therapy to help with daily functioning. Seizures are treated with antiepileptic medication or dietary interventions. Medications may be used to treat other symptoms, including constipation, anxiety, and sleep problems.

Many children with AS are helped by augmentative communication supports (see Augmentative Communication (AAC)). With behavioral interventions, many children with AS can be in a mainstreamed, inclusive, “regular” classroom.

Some children with AS have vision impairment, or problems distinguishing things visually. They might not be able to identify pictures of their own parents because they are having trouble seeing, rather than due to problems with mental functioning. If this is identified early, vision therapy may help. Lighting adjustments and high contrast can also help.

The diagnosis of AS in your child will have an significant impact on your family. Children with AS will most likely have intellectual disability and other delays such as with physical and social skills. They will most likely have seizures and may need therapies and special education to get to their full potential. This may be very hard for families at first, but you will most likely find that you can rise to meet the challenges, and that there will be good things you can't seem to see right when you get the diagnosis. The Medical Home Portal is designed to help and to answer some of your questions, not just now but as your child grows older, too. We suggest that you talk to the Angelman Syndrome Foundation (ASF) for help and support, and look for local or online support groups.

It is sometimes hard to tell seizures from repetitive movements in children with Angelman syndrome. Your child's neurologist may not want to over-medicate for movements that are not known to be seizures, and is likely looking at your child's record, EEG results, etc. Ask this question at your next neurology visit or with your child's primary care doctor. It is helpful to take a video of any movements that may be a seizure and show the video to the doctor.

Some prescription assistance programs for epilepsy medications may be able to help, based on family earnings. Some drug companies may also have programs that help cover the cost. See Prescription Assistance Programs (Epilepsy Foundation).

Some generic versions of medications may not be absorbed as well or may be less effective than others or the brand name version. Talk with your doctor or pharmacist for more information about this issue.