News

Anxiety and movement disorders may increase with age in adults with Angelman syndrome, while the prevalence of seizures may decrease, a study suggests. The results also call into attention the need for better monitoring and treatment, provided by a multidisciplinary medical team, to improve quality of…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

A case of two sisters with classic symptoms of Angelman syndrome but no identifiable genetic mutation highlights the importance of proper diagnosis and care to improve the quality of life in this patient population. Reported by Çelebi Kocaoğlu, MD, from the Konya Training and Research Hospital in Turkey, the…

A potential target of the UBE3A enzyme, the protein underlying Angelman syndrome, has been identified in a recent study. The protein, called DNA damage-inducible protein 1 homologue 1 (DDI1) is expressed in the developing brain of mouse models and is a target of the UBE3A enzyme in human…

To celebrate the Canadian Angelman Syndrome Society’s (CASS) 25th anniversary, the society hosted its 2018 annual conference April 20-21, in Toronto, Ontario. The conference, held at the Omni King Edward Hotel in downtown Toronto, provided the Angelman syndrome (AS) community a weekend of team-building, education and empowerment. The…

Taurine was able to recover motor capacity, learning and memory skills in a mouse model of Angelman syndrome, indicating the compound may be a potential therapy to treat motor and cognitive deficits in Angelman patients. The study “Taurine Administration Recovers Motor and…

In vitro fertilization (IVF) appears to increase the risk of Angelman syndrome as a result of a genetic mechanism known as an imprinting error, according to a study of IVF pregnancies. Several studies have indicated that IVF is accompanied by an increased risk of certain conditions with imprinting disorders, such as…

A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…

Early and careful detection of the spectrum of neurodevelopmental disabilities in children with Angelman syndrome is essential to planning personalized rehabilitation programs and improving outcomes, research suggests. These findings emphasize the need for early diagnosis, particularly of neurovisual disorders, which can seriously contribute to cognitive impairment…

Oral diazepam is an effective treatment for Angelman syndrome patients who have prolonged seizure activity without convulsions, a study shows. It is also safe, researchers said. The study, “Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome,” appeared in the journal Epilepsy & Behaviors. Diazepam,…