Angelman Syndrome

Angelman’s or Angelman syndrome (AS) is a rare genetic disorder, but it is only rarely inherited from a parent. Many children with AS do not learn to talk and have seizures. The disorder is marked by:

• A happy nature with lots of laughter
• Trouble with movement and balance
• Delayed development
• Severe intellectual disabilities

Kids with AS are sometimes wrongly diagnosed with cerebral palsy [ser-REE-bruhl PAWL-see] or autism [AW-tiz-uhm], since these conditions have similar symptoms. Special blood tests for the gene that causes Angelman’s can often help your doctor make the right diagnosis. For other cases, a doctor with experience in AS can determine if a child has Angelman’s.

Only 1 child in about 15,000 has AS, but it’s possible that many cases are missed. With the right diagnosis, your doctor can help find AS-specific treatment options for your child.

Treatments are supportive and based on symptoms, since there is no cure for Angelman’s. Your child will need help throughout life, but with early diagnosis and therapy they can learn many skills that can help them live a better life.

 

Your child may not show any signs of Angelman syndrome at birth. When they are 6 to 12 months old, delays in development become clearer. They will be more unsteady than other kids and will smile more.

They may not babble or coo like other babies. While your child might not be able to talk at all, or can only say a few words, they might be able to communicate better using hand and body gestures.

Almost all children with AS tend to have these symptoms:

• Delays that limit functional development
• Problems with movement and balance
• Happy nature (lots of laughter and smiling, often with no reason)
• No or little talking

Because children with AS use hand-flapping and waving, they are sometimes thought to have autism. Along with the happy nature and flapping movement, your child will likely have an excitable personality.

Most children with AS also show these signs:

• Smaller head size by 2 years old
• Seizures by 5 years old
• EEG result patterns that are not normal

An EEG or electroencephalogram [ih-LEK-troh-en-SEF-uh-luh-gram] is used to study the brain. It can help guide the treatment of seizure disorders. Your child’s seizures may be lifelong but can get better with time. The EEG results can show up before other signs are present.

Some other common signs of AS include:

• Tongue thrusting
• Problems swallowing
• Wide mouth with teeth spaced widely
• Crossed eyes
• Drooling
• More than normal chewing on objects
• Lighter hair and eye color than family members’
• Trouble sleeping more than 5 hours
• More sensitivity to heat than normal
• Scoliosis
• Constipation
• Obesity (in older children)
• Severe intellectual disability

Your child may also show a fascination with water, crinkled paper, music, and shiny objects. As they age, your child’s seizures and excitability will lessen, and they will go through puberty.

You should take your child to see a doctor whenever you see any developmental delays, such as not learning to crawl. One of the first signs of Angelman’s in a baby is a problem with feeding or acid reflux, so it is important to check with a doctor if your child has these issues. You should also tell your doctor if:

• Your baby or toddler has missed or delayed milestones, like walking or talking
• Your child has trouble with movement or balance
• Your child laughs and smiles a lot, often with no reason

Seizures are another sign of Angelman syndrome. If your child ever has a seizure, you should go to an emergency room right away.

Angelman syndrome is a genetic disorder, but it is rarely inherited from a parent. Most cases are the result of a random mutation (a change that happened by chance) in a gene named UBE3A, one of millions of genes in the human body’s 46 chromosomes. If your child has AS, their UBE3A gene has one of these problems:

• It was deleted.
• The structure was changed.
• The function was changed.

These problems happen randomly most of the time. Only about 3 percent of AS cases are due to an inherited gene.

The two main ways to diagnose Angelman’s are:

• Special blood tests
• A clinical evaluation by a doctor

A doctor will review your child’s medical history and symptoms. They will examine your child, looking for signs such as clumsy or jerky movement and hand-flapping.

Your doctor will also order DNA testing that can be done with a sample of your child’s blood. The tests will look for mutations and other problems with the UBE3A gene. About 10 to 20 percent of cases can’t be confirmed with these tests.

Other tests that might be given include an MRI of your child’s brain or an EEG.

No cure exists for Angelman’s, and treatment is focused on managing health problems and other issues your child may have. For instance, children with AS often have seizures that medicine can help control.

With a mild case of AS, your child might begin to walk by age 3. With a severe case, they may never walk without the help of devices such as a walker or canes. If your child has severe scoliosis, an abnormal curve or curves in their spine, they might need surgery.

To help your child reach their potential, therapies can be used to help with developmental and other problems, including:

• Behavior therapy to help with sleep problems and excitability.
• Occupational therapy to help teach living skills.
• Speech therapy to help your child learn to talk more.
• Communication therapy to help your child learn ways to communicate without speech.
• Physical therapy to help your child with movement.

If your child has Angelman’s, you can talk to your doctor about genetic counseling for you, your child, and other members of your family. A genetic counselor can talk to you about other problems that might be present in your genes.

Because most cases of Angelman’s are the result of a random mutation or change in a gene, it is impossible to prevent it. It is possible for a person with Angelman’s to have a child and pass on their condition. Most of the time, nothing that a mother or father did led to their child’s condition.

What is Angleman Syndrome?

Angelman syndrome (AS) is a rare genetic disorder. It is marked by a happy nature with lots of laughter, trouble with movement and balance, delays in reaching developmental milestones, and severe intellectual disabilities. Many children with AS also have seizure disorders. Treatments for AS focus on controlling seizures and other medical complications, as well as helping your child reach their potential through therapy.