Alice Melão,  —

Lowering the levels of two proteins involved in nerve cell development and tightly linked to the activity of UBE3A — the enzyme that is faulty in Angelman syndrome — could be an attractive way of reversing the deficits in nerve cell communication that characterize UBE3A-related disorders, according to a recent…

Manipulation of the mechanism that controls UBE3A gene activation status in the brain may represent an alternative strategy to treat Angelman syndrome, a study suggests. The study, “A bipartite boundary element restricts UBE3A imprinting to mature neurons,” was published in the…

A clinical study has began to enroll patients with Angelman syndrome to explore the safety and tolerability of a nutritional formula supplemented with ketones for use in dietary interventions. This study is being conducted by Disruptive Nutrition, the keto-medical foods company subsidiary of Disruptive Enterprises, in collaboration with researchers…

Evaluating mice bearing Ube3a mutations with a set of five behavioral tests may be a useful tool for preclinical therapy testing to identify treatments for Angelman syndrome, a study suggests. The study, “A behavioral test battery for mouse models of Angelman syndrome: a powerful tool for testing drugs…

Unpredictable responses to anesthesia drugs and difficulty to intubate should be taken into consideration before Angelman syndrome patients undergo surgery, according to a case study. In the case report, “Angelman syndrome and anaesthetic considerations,” published in the Indian Journal of Anaesthesia, researchers presented the case of…

A new mutation in the UBE3A gene, which was linked to a more mild form of Angelman syndrome, was found in three children from two unrelated families, according to a case report. The study, “Two Angelman families with unusually advanced neurodevelopment carry a start codon…

Over the past 40 years, a clear majority — 55 to 73 percent — of students with intellectual disabilities spend most or all of their school day separated from peers without disabilities, in self-contained classrooms or schools, despite the requirements of the Individuals with Disabilities Education Act (IDEA). This finding was…

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…

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 possible reason for the reduced ocular pigmentation — the pale eyes — found in people with Angelman syndrome and Prader-Willi syndrome was described by scientists at Vanderbilt University Medical Center. The research team found that mice lacking the GABRB3 gene have nearly complete loss of retinal pigmentation. Since this gene is…