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…
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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,…
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