Angelman syndrome

Diagnosis

Your child's healthcare professional may suspect Angelman syndrome if your child has developmental delays, talks little or not at all, or has other symptoms. Symptoms can include seizures, trouble with movement and balance, or a small head size.

Angelman syndrome can be hard to diagnose because it shares symptoms with other conditions and syndromes, such as autism spectrum disorder, cerebral palsy and other genetic differences.

Tests

A genetic test can usually confirm Angelman syndrome. This gene testing can find changes in a child's genes that indicate Angelman syndrome.

A mix of gene tests can show the changes linked to Angelman syndrome. These tests may review:

• Parental DNA pattern. This test, known as a DNA methylation test, screens for three of the four known gene changes that cause Angelman syndrome.
• Missing chromosomes. A chromosomal microarray (CMA) can show if parts of chromosomes are missing.

• Gene changes. Rarely, Angelman syndrome happens when a person's maternal copy of the UBE3A gene is active but changed. If results from a DNA methylation test are typical but your child still has features of Angelman syndrome, your child's healthcare professional may order a UBE3A gene sequencing test to look for a maternal change.

  Because of the link between Angelman syndrome and seizures, a healthcare professional also might do an electroencephalogram (EEG). An EEG measures the electrical activity of the brain.

Treatment

There's no cure for Angelman syndrome. Research is looking at targeting specific genes, including ways to restore UBE3A activity in the brain. Current treatment focuses on managing symptoms and supporting development at every age.

A team of healthcare professionals from different areas works with you to manage your child's condition. Depending on your child's symptoms, treatment for Angelman syndrome may involve:

• Antiseizure medicine to help control seizures.
• Physical or occupational therapy to support walking, movement and daily activities.
• Communication and speech therapy, which may include sign language, picture communication or speech-generating devices.
• Behavior therapy to help with hyperactivity, short attention span and behavioral development.
• Medicines and sleep training to manage sleep issues.
• Diet changes and medicines to help with feeding troubles and constipation.

Coping and support

Finding out that your child has Angelman syndrome can be hard. You may not know what to expect. You may worry about whether you can care for your child's medical needs and developmental disabilities. There are resources that can help.

Work with a team

Find a team of healthcare professionals, including therapists, that you trust to help you make decisions about your child's care and treatment. These professionals also can help you find local resources.

Consider a support group

Being in touch with other families facing issues like yours may help you feel more connected. Ask your child's healthcare professional about local support groups and other helpful organizations.

Preparing for your appointment

Call your healthcare professional if your baby or child is not developing as expected or has other symptoms of Angelman syndrome. Your healthcare professional may then refer you to a doctor who specializes in conditions that affect the brain and nervous system, called a neurologist.

Here's some information to help you get ready for your appointment.

What you can do

• Write down symptoms you've seen in your child, and when they began.
• Bring baby books and other records of your child's development to the appointment. Photos and video recordings can be helpful.
• List your child's key medical information, including other conditions for which your child is being treated. List the names of medicines, vitamins and supplements your child takes, including doses.
• Ask a family member or friend to join you for your child's appointment. Someone who's with you can offer support and help you remember the information you're given.
• Write down questions to ask your healthcare professional.

Questions to ask include:

• What is likely causing my child's symptoms?
• Are there other possible causes for these symptoms?
• What tests does my child need?
• Should my child see a specialist?

Questions to ask a specialist include:

• Does my child have Angelman syndrome?
• What are the possible complications of this condition?
• What therapies are there?
• What treatment do you suggest?
• What is the long-term outlook for my child?
• Should my child or I be tested for the gene changes that are linked to this condition?
• What other specialists should my child see?
• How can I find other families who are coping with Angelman syndrome?

Be sure to ask all the questions you have.

What to expect from your doctor

A healthcare professional who sees your child for possible Angelman syndrome might ask:

• Does your child have trouble eating?
• Is your child reaching the expected, age-related physical milestones?
• Have you seen issues with balance or movement?
• Does your child laugh, smile or get excited more often than peers?
• Does your child have odd behaviors, such as hand flapping?
• Does your child communicate in words?
• How well does your child sleep?
• Has your child had seizures? If so, how often?
• Have any of your child's first-degree relatives, such as a parent or sibling, been diagnosed with Angelman syndrome?