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People with Angelman syndrome (AS) can demonstrate an ability to comprehend verbal communication as accurately as typically developed children, but tend to process the information slower, a study found. This comprehension was evaluated using a looking-while-listening (LWL) test, designed to evaluate whether a person’s eyes will fixate on an…

Note: This story was updated Oct. 26, 2022, to correct that John Schlueter became a member of the Foundation for Angelman Therapeutics board months after learning about the foundation. It’s also been corrected to note that the investigational treatment GTX-102 targets and inhibits…

A telehealth-based training program for parents of children with Angelman syndrome helped them in using naturalistic communication interventions (NCI), set around daily at-home activities with the child, a study reported. Better use of an NCI, which is intended to promote social engagement and language development through play and daily routines,…

A wearable sensor called Physilog 5 is practical and efficient for monitoring gait in children with Angelman syndrome and in Prader–Willi syndrome (PWS), another rare neurodevelopmental disorder, a small study suggests. These “real-world” measures “have potential advantages for children with disability, who may have difficulty accessing gait laboratories,…

A history of reflux and night sweats during infancy may help identify children and adolescents with Angelman syndrome who are at higher risk for more gastrointestinal (GI) symptoms, according to a new study. “GI symptoms were found to be very common in people with AS and significant associations were…

The Foundation for Angelman Syndrome Therapeutics (FAST) has awarded a $500,000 grant to support the development of a less-invasive, brain-directed therapy for people with Angelman syndrome. The two-year grant was awarded to Barbara Bailus, PhD, an assistant professor of genetics at Keck Graduate Institute, in California. Her winning…

The expression, or activity, of a trio of genes are altered in the nerve cells of people with Angelman syndrome, a new study suggests, and researchers say that assessing these levels may help in disease diagnosis. Two of the genes, ADAMTS2, and SLC30A8, had lower-than-normal expression in nerve cells,…

People with Angelman syndrome have altered networks of brain connectivity, which may play a role in developing the behavioral abnormalities that mark the condition, according to a new study. The study, “Disrupted Topological Organization of White Matter Network in Angelman Syndrome,” was published in the Journal of Magnetic…

A teenage boy with Angelman syndrome, whose developmental differences were less substantial than those typically seen with the condition, was found to have genetic mosaicism — meaning some but not all of his cells harbored an Angelman-causing mutation — according to a case report. The diagnosis followed detailed genetic…

A new mutation in the UBE3A gene associated with Angelman syndrome was described in a recent report and modeling studies suggest the modification interferes with the function of the UBE3A protein by decreasing its ability to interact with ubiquitin, another protein. The study, “Studying Disease-Associated UBE3A Missense…