Author Archives: Emily Malcolm, PhD

If the doctor has recommended that your child receive a genetic test for Angelman syndrome, you may be wondering how best to prepare for the appointment. Genetic tests are medical exams that look for changes in the genome — a person’s complete set of DNA — that might…

You may have concerns about the risk of having a child with Angelman syndrome, especially if you have a family history of the disease, including an older child with this disease. The majority of cases occur through spontaneous mutations in families with no history of Angelman syndrome.

Reaching a diagnosis of Angelman syndrome is often a difficult and drawn-out process. The symptoms of the disease are similar to several other disorders, and doctors usually reach a diagnosis by a process of elimination. Getting a definitive diagnosis can be a frustrating ordeal for patients and their…

If you have a family history of Angelman syndrome and are expecting, you may want to consider prenatal genetic diagnosis. What is prenatal genetic diagnosis? Prenatal genetic diagnosis means determining, before birth, whether your baby has a genetic disease such as Angelman syndrome. During pregnancy, you meet frequently meet…

If you have a child with Angelman syndrome, you may have concerns about whether any future children will be at risk of also inheriting the neurological disease. Speaking with a genetic counselor is the best way to determine the risks in each specific case, and to discuss your reproductive…

Seizures are very common in people with Angelman syndrome. About 90% of patients experience seizures, which generally appear around age 2. Parenting a child with Angelman syndrome can be very stressful. Many worry about their child having a seizure during the night, or during playtime…

Angelman syndrome is a rare genetic disease characterized by delayed development and motor difficulties. The symptoms of this neurological disorder can appear early in life, but the diagnosis is often a lengthy and challenging process. An electroencephalogram (EEG), a test which measures electrical activity in the brain,…

Angelman syndrome is a rare genetic disorder characterized by neurological and developmental problems, among other symptoms. More than 90% of patients experience epileptic seizures, which can be dangerous. However, several methods can help control seizures in patients with Angelman syndrome. Medications Many common anti-seizure medications…

Angelman syndrome is a rare genetic disorder that affects about 1 in 15,000 people. The disease is characterized by intellectual and physical disabilities. There are several variants of Angelman syndrome, based on the genetic cause of the disease. Genetics of Angelman syndrome We all have…

Angelman syndrome is a rare neurological disease characterized by physical and mental developmental delays, among other symptoms. The disease affects about 1 in 12,000 to 20,000 people. Most cases of Angelman syndrome occur as a result of a random genetic mutation. However, a small number of…