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A “wide spectrum” of vision impairments can be common in people with Angelman syndrome but may not be fully recognized, causing further difficulties in their cognitive and functional development, a study reported. Based on the findings, researchers recommend that children diagnosed with Angelman undergo routine vision assessments so that early…

Behavioral assessments by parents of children with Angelman syndrome and other genetic neurodevelopmental disorders substantially differed from those reported by clinicians, a study revealed. Appraisal of hyperactivity showed the highest agreement between parents and professionals, whereas self-injury behaviors showed the poorest agreement. These findings have implications for clinical trials,…

In a mouse model of Angelman syndrome, male and female mice show similar responses in tests of memory and fear, a study found. “Our results support the general conclusion previously reported in the field that there is no clear sex difference in fear-conditioning learning in [Angelman] mice,” the researchers…

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,…