Angelman Syndrome in Adults

Angelman Syndrome in Adults
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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 working on to treat patients throughout adulthood.

Symptoms of Angelman syndrome in adults

While people with Angelman syndrome will have intellectual disabilities and limited speech throughout their lives, adult patients usually have good health and are often able to steadily improve their communication and acquire new skills. Around 13% of adults with Angelman can speak at least five words. Most communicate through gesturing or with the use of augmentative and alternative communication. Around 68% of adults with Angelman are able to communicate their basic needs.

Sleep disturbances and epilepsy, which affect about 80% of Angelmen children, usually improve over the years. In adults, seizures occur in about 41% of cases, although 72% of those with the disease still report poor sleep.

Constipation is another common symptom of Angelman syndrome and about 85% of adults experience it. In addition, some 32% of adults with Angelman tend to be overweight due to factors such as genetic composition, an abnormal sense of satiety, and mobility problems.

Scoliosis, or the abnormal sideways curvature of the spine, is frequent in Angelman. Researchers have reported the condition in about 20% of children and 50% of adults with the disease. Some 68% of adults are able to walk independently. However, some mobility may be lost as patients age, and joints may stiffen.

study published in the American Journal of Medical Genetics showed that 47% of adolescents and 71% of adults with Angelman had anxiety issues. According to Angelman UK, 52% of adults exhibit self-injurious behavior.

Potential new treatments

Right now, available treatments focus on managing the disease’s symptoms. If it wins U.S. Food and Drug Administration approval, OV101 (gaboxadol) would be the first medicine in the U.S. that treats Angelman’s underlying cause. Researchers are currently testing the oral small molecule, which is being developed by Ovid Therapeutics, in adolescents and adults with the disease.

The results from a recently completed Phase 2 study, known as the STARS trial (NCT02996305), showed that the experimental treatment — one of several that scientists are developing — improved the Clinical Global Impression score as well as sleep, behavior, and motor function in adults and adolescents. The treatment also was found to reduce anxiety.

The randomized, double-blind, placebo-controlled trial enrolled 78 participants, ages 13 to 49, with a confirmed diagnosis of Angelman syndrome. In trials, the experimental therapy has proven generally safe; most side effects are mild.

 

Last updated: Aug. 3, 2020

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Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. 

Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Mary M. Chapman began her professional career at United Press International, running both print and broadcast desks. She then became a Michigan correspondent for what is now Bloomberg BNA, where she mainly covered the automotive industry plus legal, tax and regulatory issues. A member of the Automotive Press Association and one of a relatively small number of women on the car beat, Chapman has discussed the automotive industry multiple times of National Public Radio, and in 2014 was selected as an honorary judge at the prestigious Cobble Beach Concours d’Elegance. She has written for numerous national outlets including Time, People, Al-Jazeera America, Fortune, Daily Beast, MSN.com, Newsweek, The Detroit News and Detroit Free Press. The winner of the Society of Professional Journalists award for outstanding reporting, Chapman has had dozens of articles in The New York Times, including two on the coveted front page. She has completed a manuscript about centenarian car enthusiast Margaret Dunning, titled “Belle of the Concours.”
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