Angelman Syndrome

Introduction

The Questions and Answers that follow aim to provide an introduction to Angelman syndrome (AS) for parents and other family members. Following those, we offer links to selected resources for more information and support and a list of valuable services.
More information about many topics relevant to children with AS and many other chronic conditions and their families can be found in the left menu. Detailed information aimed at primary care doctors can be found in our Angelman Syndrome module.

What is 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.

How do you get Angelman syndrome?

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.

What are the symptoms?

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.

How is it diagnosed?

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 .

What is the expected outcome?

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.

Will anyone else in the family get Angelman syndrome?

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. .

What is the treatment?

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.

How will my family's life be changed?

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 for help and support, and look for local or online support groups.

My child seems to be having seizures often but her neurologist does not yet want to start medication. Why?

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.

We don't have insurance and our child needs a second, very expensive medication for his seizures. What can we do?

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 (American Epilepsy Society).

My child started taking a generic version of her seizure medication and now she is having more seizures. Why is this?

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.

Resources

Information & Support

Where can I go for further information?

For Parents and Patients

Support

Support Resources (Angelman Syndrome Foundation)
Educational and community resources for those caring for children with Angelman syndrome.

Epilepsy Foundation
A national organization that provides information about epilepsy; programs to improve epilepsy treatment; materials to assist in helping people with epilepsy find jobs; activities in schools to educate the public; activities to educate policymakers; funds for research; links to find local and state resources; and news about conferences and other items of interest.

Foundation for Angelman Syndrome Therapeutics (FAST)
Established in 2008, FAST aims to assist individuals living with Angelman syndrome to realize their full potential and quality of life and to bring practical treatment into current medical practice as quickly as possible. The website offers educational material, ways to connect with the founder (a parent of a child with Angelman syndrome) and with other parents, and other resources.

General

Angelman Syndrome Foundation
Information, resources, and discussion forums for individuals with AS and their families. This organization also raises money for research on AS.

Angelman Syndrome (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.

Angelman Syndrome (Orphanet)
Information and links about AS.

Angelman Syndrome (Mayo Clinic)
Information about symptoms, causes, risk factors, complications, tests, treatment, and coping strategies.

American Epilepsy Society
Information and resources to understand epilepsy, especially for those who are not familiar with the condition.

Genetics in Primary Care Institute (AAP)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American Academy of Pediatrics.

Prescription Assistance Programs (American Epilepsy Society)
Information and links to various prescription assistance programs, which may help reduce the cost of medications significantly.

Services for Patients & Families in Rhode Island (RI)

For services not listed above, browse our Services categories or search our database.

* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.

Studies

Families can join the Patient Contact Registry (Rare Diseases Clinical Research Network) for the Angelman, Rett & Prader-Willi Syndromes Consortium.

Angelman Syndrome Studies (clinicaltrials.gov)
Find currently open studies registered with National Institutes of Health.

Authors & Reviewers

Last update/revision: July 2019
Current Authors and Reviewers:
Reviewer: Lora Meerdo
Funding: The Medical Home Portal thanks the 2011-2012 URLEND Medical Home Portal trainees group for their contribution to this page.
Authoring history
2018: first version: Alan F. Rope, MDR
AAuthor; CAContributing Author; SASenior Author; RReviewer