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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…

Ultragenyx will continue clinical development of GTX-102, an investigational treatment for Angelman syndrome, after acquiring GeneTx Biotherapeutics — the company that was developing it — in a $75 million deal earlier this month. The therapy was originally developed in the laboratory of Scott Dindot, PhD, in the…

Most children and adolescents with Angelman syndrome experience problems with sleep and digestive issues such as constipation, a new study highlights. Challenging behaviors such as aggression are generally more common and more severe in these children, which suggests that treating underlying symptoms may help to manage their behaviors. “Findings…