Spinal surgery for scoliosis carries a high likelihood of complications, including serious ones, among people with Angelman syndrome and a related disorder known as Prader-Willi syndrome, a study highlights. “These findings provide additional evidence to support the idea that surgical intervention in patients with scoliosis with underlying AS [Angelman…
Linoleic acid, a fatty acid commonly found in seed oils, eased movement and balance problems in a mouse model of Angelman syndrome (AS), a study reported. AS mice fed a diet enriched with linoleic acid were found to have enhanced activity of PIEZO2, a protein channel found in nerve…
Because antisense oligonucleotide (ASO) therapies target specific genetic sequences, differences across mammals make it challenging to translate potential Angelman ASO-based therapies from preclinical models to the clinic. GTX-102, an investigational ASO therapy for Angelman syndrome, was specifically designed to be effective in patients and relevant animal models, however.
The UBE3A protein is needed shortly after birth for the proper development of the dorsomedial striatum, part of a brain region called the basal ganglia, a mouse study suggests. Findings shed new light on the neurological disruptions that give rise to Angelman syndrome and its symptoms, a disease caused by mutations that…
Breaking into a smile may hold the attention of people with Angelman syndrome (AS) for longer than just holding a neutral face, a study suggests. However, while positive facial emotions were attention-grabbing, people with AS didn’t spend as much time looking at them as did children who did not…
Certain structures within the brains of children with Angelman syndrome were altered compared with unaffected children of the same age, an MRI study concluded. Imaging found a thinner and more folded outer cortex layer and reduced gray matter volume within the inner subcortex region in Angelman children. More serious…
A tailored behavioral intervention program led to longer sleep time, better sleep habits, and improved quality of life in children with Angelman syndrome, a Dutch study reports. The findings suggest “behavioral intervention has a positive and persistent effect on sleep problems in children with AS [Angelman symdrome],” the researchers…
Severe seizure events known as status epilepticus are common in people with Angelman syndrome, especially during childhood, a new review study found. Researchers noted that status epilepticus often causes subtle symptoms that may be overlooked by caregivers and clinicians, highlighting the importance of correctly identifying and promptly treating these…
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…
Get regular updates to your inbox.