Angelman syndrome is a genetic disorder. It causes developmental disabilities, neurological problems and sometimes, seizures.
People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities.
Developmental delays, between about 6 and 12 months of age, are usually the first signs of Angelman syndrome. Seizures often begin between the ages of 2 and 3 years old.
People with Angelman syndrome tend to live a normal life span, but the disease cannot be cured. Treatment focuses on managing medical and developmental issues.
Angelman syndrome signs and symptoms include:
People who have Angelman syndrome may also have other signs and symptoms, including:
Most babies with Angelman syndrome don't show signs or symptoms at birth. The first signs of Angelman syndrome are usually developmental delays, such as lack of crawling or babbling, between 6 and 12 months.
If your child seems to have developmental delays or if your child has other signs or symptoms of Angelman syndrome, make an appointment with your child's doctor.
Angelman syndrome is a genetic disorder. It's usually caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene.
You receive your pairs of genes from your parents â one copy from your mother (maternal copy) and the other from your father (paternal copy).
Your cells typically use information from both copies, but in a small number of genes, only one copy is active.
Normally, only the maternal copy of the UBE3A gene is active in the brain. Most cases of Angelman syndrome occur when part of the maternal copy is missing or damaged.
In a few cases, Angelman syndrome is caused when two paternal copies of the gene are inherited, instead of one from each parent.
Your child's doctor may suspect Angelman syndrome if your child has developmental delays and other signs and symptoms of the disorder, such as problems with movement and balance, small head size, flatness in the back of the head, and frequent laughter.
A definitive diagnosis can almost always be made through a blood test. This genetic testing can identify abnormalities in your child's chromosomes that indicate Angelman syndrome.
A combination of genetic tests can reveal the chromosome defects related to Angelman syndrome. These tests may review:
Complications associated with Angelman syndrome include:
In rare cases, Angelman syndrome may be passed from an affected parent to a child through defective genes. If you're concerned about a family history of Angelman syndrome or if you already have a child with Angelman syndrome, consider talking to your doctor or a genetic counselor for help planning future pregnancies.
Finding out that your child has Angelman syndrome can be overwhelming. You may not know what to expect. You may worry about your ability to care for your child's medical concerns and developmental disabilities. There are resources that can help.
Find a team of doctors and therapists you trust to help you with important decisions about your child's care and treatment. These professionals can also help you find local resources.
Connecting with other families facing similar challenges may help you feel less alone. Ask your child's doctor for information about local support groups and other helpful organizations.
Angelman syndrome is rare. Researchers usually don't know what causes the genetic changes that result in Angelman syndrome. Most people with Angelman syndrome don't have a family history of the disease.
Occasionally, Angelman syndrome may be inherited from a parent. A family history of the disease may increase a baby's risk of developing Angelman syndrome.