Use of Enhanced Natural Gestures and Angelman Syndrome
Stephen Calculator – University of New Hampshire
Individuals with AS are quite animated in their attempts at communication and can be pro-social even though they have severe speech impairment. Although fluent sign language is beyond the motor and cognitive abilities of those with AS, there is an important type of gesturing communication that occurs by more simplistic physical signals that are less complicated than formal sign language. The purpose of this funded project was to gain information about how to use, and build upon, the natural gesturing capabilities of those with AS.
GABA-A receptor beta 3 subunit knockout mice
Richard Olsen; Tim DeLorey
In some individuals with AS, severe seizure problems can limit developmental outcomes and disrupt family life. Those with the most severe seizures in AS have a large chromosomal deletion which removes or disrupts UBE3A but the deletion also removes an adjacent gene, GABRB3, important in regulating the membrane sensitivity of the neuron. It was hoped that developing a mouse model with GABRB3 deleted would provide more information about epilepsy and EEG patterns in AS. This work as well, as prior work funded in 1997, helped clarify the primary and major role of UBE3A disruption in causing seizures in AS.
Behavioral Aspects of Angelman Syndrome
Nicolay Walz – Cincinnati Children’s Hospital
This research project was one of the earliest extensive surveys of behavioral traits in AS and was funded and enabled by the Angelman Syndrome Foundation (ASF) because of ASF’s affiliation with so many families within and outside of the United States. Data from this questionnaire, and further follow-up studies by the investigator, subsequently led to several crucial papers. These publications showed that individuals with AS have abnormalities in sensory processing and therapeutic intervention was discussed.
GABA beta3 Deficient Mice
The gene that is defective in AS is UBE3A and in 70% of individuals who have AS this gene and genes nearby it are deleted from chromosome 15. This project sought to determine if one of the adjacent genes to UBE3A was important in causing abnormalities when it was also deleted in combination with UBE3A. The experimental approach used mice that were only missing the adjacent gene, GABRB3, but had UBE3A in place and not deleted. The results of this study as well as future studies on this question showed that UBE3A is the major gene that when disrupted causes the seizures in AS.
Melatonin and Sleep in Angelman Syndrome
Joseph Wagstaff – Boston Children’s Hospital
This research grant determined if melatonin, a well-known drug that has been used to improve sleep, could be effective in individuals with Angelman syndrome (AS). Children with AS were monitored at night using motion detecting devices and sleep observations. This study showed positive results and its findings helped lead to the established therapeutic use of melatonin to help improve sleep in AS.