Angelman Syndrome

Angelman Syndrome is a developmental disability with epilepsy, intellectual disability, unprovoked laughter, jerky movements of the limbs and lower torso, absence of speech, lack of sleep, and ataxia (lack of muscle movement coordination). It was first termed as, "the happy puppet syndrome" because of the laughter and puppet-like movements. This syndrome is genetic, found in every 1/15,000 children. This symptoms are due to a deficient UBE3A gene that could possibly be caused by various abnormalities of chromosome 15.

"Recent findings in animal models demonstrated altered dendritic spine formation as well as both synaptic and non synaptic influences in various brain regions including hippocampus and cerebellar cortex." ( Bernard 2009). What this means is that there is a possibility for reversal in animals, which could lead to a reversal in humans, which could mean a cure for Angelman syndrome. The more clearly the UBE3A gene is understood, the more likely it is that we can find intervention. This article by Dan Bernard talks about some research done on animals, but talks more about the research that needs to continue to help with the debilitating symptoms such as the epilepsies and behavior and speech problems.