Mary Chapman, features writer —

To raise awareness of the rare disease communities and celebrate the creativity of its members, the EveryLife Foundation for Rare Diseases is seeking submissions to the 2020 Rare Artist contest. Established in 2010, the contest is open internationally to patients, caregivers, physicians, friends, or anyone else who…

While the first signs of Angelman syndrome usually appear in early childhood, adults with the disease can live long and full lives with appropriate treatment and a good support network. Below are some pointers about how the rare genetic disease affects adults and the therapies researchers are…

Angelman syndrome is a rare neurological genetic disorder that causes physical and intellectual disabilities. No cure is available, but treatments can help patients to manage symptoms and improve their quality of life. As the disorder affects motor function, exercise and physiotherapy may help improve the…

The Angelman Syndrome Foundation (ASF) and the Canadian Angelman Syndrome Society (CASS) are partnering, both to increase research into the complex neurological genetic disorder and to support the families affected by it. Angelman syndrome (AS) affects an estimated 1 in 15,000 individuals, or about 500,000…

About 90% of Angelman syndrome patients experience seizures, which usually first appear around the age of 2 — possibly before the disease itself has been diagnosed. Seizure diaries can help you manage, and possibly better treat, your child’s condition. What is Angelman syndrome? Angelman syndrome is a…

A ketogenic diet can be effective in controlling the frequency of seizures in Angelman syndrome, particularly in children who don’t respond to medication. If your child has Angelman syndrome, here are some considerations before starting your child on the diet. What is Angelman syndrome? Angelman syndrome is…

Angelman syndrome shares many characteristics with more common disorders, such as autism and cerebral palsy. For this reason, it can take a few years for your child to be correctly diagnosed. In fact, about half of all Angelman patients are initially misdiagnosed. Once you know the…

Supporting efforts to find effective treatments for Angelman syndrome (AS), the Foundation for Angelman Syndrome Therapeutics (FAST) has awarded two UC Davis MIND Institute scientists a $3 million grant. The recipients are Jill Silverman, PhD, associate professor in the Institute’s department of psychiatry and behavioral sciences, and…

Children with Angelman syndrome tend to have a dysfunctional sensory system, meaning that, at times, they may have unusual responses, over- or under-reactions, to stimulation. A sensory diet could help regulate these sensory responses, and improve learning and behavior. What is a sensory diet? A sensory “diet”…

If you are a parent or caregiver of someone with a confirmed Angelman syndrome diagnosis, it’s important that you share your experiences by participating in the Global Angelman Syndrome Registry. Among other things, the information collected is expected to help researchers develop new therapies for Angelman syndrome, and doctors…