Angelman Syndrome
Angelman syndrome is a condition caused by a change in a gene, called a genetic change. Angelman syndrome causes delayed development, problems with speech and balance, mental disability, and, sometimes, seizures.
Many people with Angelman syndrome smile and laugh often. They tend to be happy and easy to excite.
Delays in maturing, called developmental delays, begin between about 6 and 12 months of age. The delays often are the first signs of Angelman syndrome. Seizures may begin between the ages of 2 and 3 years old.
People with Angelman syndrome tend to live close to a typical life span. But the condition can’t be cured. Treatment focuses on managing medical, sleep and developmental issues.
Angelman syndrome symptoms include:
- Developmental delays, including no crawling or babbling at 6 to 12 months.
- Mental disability, also called intellectual disability.
- No speech or little speech.
- Trouble walking, moving or balancing.
- Smiling and laughing often and seeming happy.
- Being easy to excite.
- Trouble sucking or feeding.
- Trouble going to sleep and staying asleep.
People who have Angelman syndrome also may have:
- Seizures, often beginning between 2 and 3 years of age.
- Stiff or jerky movements.
- Small head size by age 2.
- Tongue thrusting.
- Hair, skin and eyes that are light in color.
- Odd behaviors, such as hand flapping and arms uplifted while walking.
- Crossed eyes, also caused strabismus.
- Curved spine, also called scoliosis.
When to see a doctor
Most babies with Angelman syndrome don’t show symptoms at birth. The first signs of Angelman syndrome most often are developmental delays. This includes lack of crawling or babbling between 6 and 12 months.
If your child seems to have developmental delays or if your child has other symptoms of Angelman syndrome, make an appointment with your child’s healthcare professional.
Angelman syndrome is caused by changes in a gene, called a genetic change. It’s most often caused by changes in a gene on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene.
A missing or damaged gene
You receive your pairs of genes from your parents. One copy comes from your mother, called the maternal copy. The other comes from your father, called the paternal copy.
Your cells most often use information from both copies. But in a small number of genes, such as the UBE3A gene, only the copy from the mother is active.
Most often, the maternal copy of the UBE3A gene helps the brain develop. Angelman syndrome happens when part of the maternal copy is missing or damaged. So the brain can’t get the information it needs to develop and control speech and movement.
Rarely, Angelman syndrome is caused when two paternal copies of the gene are passed down instead of one from each parent.
Angelman syndrome is rare. Researchers often don’t know what causes the genetic changes that result in the disease. Most people with Angelman syndrome don’t have a family history.
But sometimes Angelman syndrome may be passed down from a parent. A family history of the disease may increase a baby’s risk of getting Angelman syndrome.
Complications linked to Angelman syndrome include:
- Trouble feeding. Trouble sucking and swallowing together may cause feeding problems in infants. Your child’s healthcare professional may suggest a high-calorie formula to help your baby gain weight.
- Hyperactivity. Children with Angelman syndrome often move quickly from one activity to another, have a short attention span, and keep their hands or a toy in their mouths. Hyperactivity often decreases with age. Medicine often isn’t needed.
- Sleep troubles. People with Angelman syndrome often have changes in their sleep-wake patterns. They may need less sleep than most people. Sleep troubles may improve with age. Medicine and behavior therapy may help.
- Curving of the spine, also called scoliosis. Some people with Angelman syndrome get a side-to-side spinal curve over time.
- Obesity. Obesity is common in older children with Angelman syndrome.
Rarely, Angelman syndrome may be passed from an affected parent to a child through changed genes. If you’re concerned about a family history of Angelman syndrome or if you have a child with the condition, seek medical advice. Your healthcare professional or a genetic counselor can help you plan future pregnancies.
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 might 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 types of syndromes.
Tests
A blood test can almost always diagnosis Angelman syndrome. This gene testing can find changes in a child’s chromosomes 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, 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.
The goals of treatment for a thoracic aortic aneurysm are to:
- Stop the aneurysm from growing.
- Prevent aortic rupture.
Treatment depends on the aneurysm’s size and how fast it’s growing.
Treatment for thoracic aortic aneurysm may include:
- Regular health checkups, sometimes called watchful waiting.
- Medicines.
- Surgery.
Regular checkups
Small thoracic aneurysms may only need medicine and regular imaging tests to watch the aneurysm.
Usually you get an echocardiogram, CT or magnetic resonance angiography scan at least six months after your aneurysm is diagnosed. How often you need these tests depends on the cause and size of the aneurysm, and how fast it’s growing.
Medications
Medicines may be used to treat high blood pressure, high cholesterol and other conditions linked to aneurysms.
- Beta blockers. These medicines slow the heartbeat and lower blood pressure. They may reduce how fast the aorta is widening in people with Marfan syndrome.
- Angiotensin 2 receptor blockers (ARBs). These medicines may be used if beta blockers can’t be taken or if they don’t lower blood pressure enough. They are often recommended for people who have Loeys-Dietz syndrome even if they don’t have high blood pressure. Examples of ARBs include losartan (Cozaar), valsartan (Diovan) and olmesartan (Benicar).
- Statins. These medicines help lower cholesterol. They can help reduce the risk of blockages in the arteries and aneurysm complications. Examples of statins are atorvastatin (Lipitor), lovastatin (Altoprev), simvastatin (Zocor, FloLipid) and others.
Surgery or other procedures
Surgery is generally recommended for thoracic aortic aneurysms about 1.9 to 2.4 inches (about 5 to 6 centimeters) and larger. Surgery may be recommended for smaller aneurysms if you have a family history of aortic dissection or a condition linked to aortic aneurysm, such as Marfan syndrome.
The type of surgery done depends on:
- The cause of the aneurysm.
- Your overall health.
- The location of the aneurysm.
Types of surgeries and procedures for thoracic aortic aneurysms include:
- Open surgery. Most people with a thoracic aortic aneurysm have this major surgery. A surgeon removes part of the aorta damaged by the aneurysm. It’s replaced with a tube, called a graft, which is sewn into place.
- Aortic root surgery. This surgery is done to prevent an aortic aneurysm from rupturing. A surgeon takes out part of the aorta and sometimes the aortic valve. A graft replaces the removed part of the aorta. The aortic valve may be replaced with a mechanical or biological valve. If the valve is not removed, the surgery is called valve-sparing aortic root repair.
Endovascular aortic aneurysm repair (EVAR). This treatment is a less invasive option to open surgery. That means it uses small surgical cuts and may allow a faster recovery. The surgeon places a thin, flexible tube into a blood vessel, usually in the groin, and guides it to the aorta. A graft on the end of the catheter goes where the aneurysm is. Small hooks or pins hold the graft in place. The graft strengthens the weakened part of the aorta.
EVAR can’t be done on everyone. Ask your healthcare professional whether it’s right for you. After EVAR, you need regular imaging tests to make sure the graft is working correctly.
- Emergency surgery. A ruptured thoracic aortic aneurysm needs emergency surgery. This open-chest surgery is risky. There is a high chance of complications. That’s why it’s important to find and treat thoracic aortic aneurysms before they rupture.
References
- Angelman syndrome information page. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/health-information/disorders/angelman-syndrome#. Accessed Nov. 3, 2023.
- AskMayoExpert. Angelman syndrome. Mayo Clinic; 2023.
- What is Angelman syndrome: Diagnosis. Angelman Syndrome Foundation. https://www.angelman.org/what-is-as/. Accessed Nov. 3, 2023.
- Adam MP, et al., eds. Angelman syndrome. In: Gene Reviews. University of Washington, Seattle; 1993-2023. https://www.ncbi.nlm.nih.gov/books/NBK1116. Accessed Nov. 3, 2023.
- Maranga C, et al. Angelman syndrome: A journey through the brain. The FEBS Journal. 2020; doi:10.1111/febs.15258.
- Ami T. Allscripts EPSi. Mayo Clinic. Nov. 14, 2023.
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