News

The protocol used by Australian researchers to create the Global Angelman Syndrome Registry, the first worldwide patient registry dedicated to Angelman syndrome (AS), has been published. Preliminary results are included in the study, providing a characterization of the more than 450 people taking part so far. More…

Three novel brain electrical signal patterns have been found in children with Angelman syndrome, which might serve as biomarkers in the assessment of future therapies, researchers report. Electroencephalography (EEG) is a method used to detect electrical signals produced by the brain when brain cells communicate. The pattern of these signals…

A new technique based on video-recorded behavior analysis can help assess communication ability in children with Angelman syndrome and may be used in future clinical studies of experimental therapies, according to researchers. Their study, “Quantitative Measurement of Communication Ability in Children with Angelman Syndrome,” was published in…

Children and teenagers with Angelman syndrome have particularly high rates of incontinence, especially if they also suffer from adaptive disabilities and epilepsy, a study reports. The study, “Incontinence in persons with Angelman syndrome,” published in the European Journal of Pediatrics, investigated the rate of incontinence and associated psychological…

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…