Lindsey Shapiro, PhD, science writer —

Children with Angelman syndrome have diminished bone health — which continues to decline with age — compared with their peers in the general population, according to a study by researchers in the Netherlands. Deletions in the UBE3A gene as the cause of disease, as well as immobility, late onset…

The translation into other languages of the Global Angelman Syndrome Registry (GASR) website has substantially boosted global participation by families affected by Angelman syndrome, a study shows. Researchers say adopting multiple languages “helps build and maintain engagement with global disease communities.” The approach could also serve as an…

Emotional and behavioral problems are the symptoms of Angelman syndrome (AS) that most significantly predict lower life quality in children with the genetic disease, according to a study from the Netherlands. Moreover, these issues — along with a child’s sleep problems — were found to have the greatest impact…

A device to remotely monitor sleep in Angelman syndrome (AS) patients, called EarlySense, was found to be feasible for characterizing their sleep patterns in an at-home setting, according to a recent report. The no-contact device recognized sleep patterns similar to those recorded with the gold-standard polysomnography (PSG) test, which involves…

OV101 (gaboxadol) fails to ease disease severity in children with Angelman syndrome (AS), according to recently published final results from the Phase 3 NEPTUNE trial. The findings are overall consistent with previously reported top-line trial data from the treatment’s developer Ovid Therapeutics, which prompted the company…

Increases in autophagy, a pathway for clearing cellular waste, were observed in cell and mouse models of Angelman syndrome (AS) in a recent study that revealed new details of this disease mechanism. Researchers noted that it isn’t yet clear whether this increase is a compensatory process to help restore…

Oxidative stress and mitochondrial dysfunction during early brain development may contribute to symptoms in people with Angelman syndrome (AS), according to a recent study. These cellular changes were observed in developing nerve cells taken from mouse embryos with AS-like disease, but not their healthy counterparts, and were associated with…

The response to acute stress may be altered in Angelman syndrome (AS), a preclinical study suggests. In a mouse model of the disorder, researchers found that the brain’s response to acute stress hormones (glucocorticoids) was enhanced. This was reflected by a more pronounced pattern of gene activity in response…

Organizations around the world will come together Feb. 15 to observe International Angelman Day (IAD), a global effort to raise awareness, honor those living with the rare neurological disease and commemorate those who have passed away. The annual initiative also seeks to encourage fundraising and support research for…

A very large deletion on chromosome 15 — the largest yet reported — was identified as the underlying cause of a severe presentation of Angelman syndrome (AS) in a 19-year-old man, according to a recent case report. While deletions on chromosome 15 are the most common cause of AS,…