Angelman syndrome is a complex neurological genetic disorder affecting about 1 in 15,000 people. The disorder, which causes physical and intellectual disabilities, was first identified by Dr. Harry Angelman, who noticed similar disabilities in many of his pediatric patients. In 1956, he started diagnosing children with a new illness he called happy puppet syndrome due to their cheerful nature and mechanical, puppet-like movements.
The disorder was renamed Angelman syndrome in 1982. Starting in the 1980s, thanks to advances in genetic research, scientists were able to shed more light on the causes of the disease, which at the time seemed to develop unexplainably.
How does Angelman syndrome affect the body?
Angelman syndrome is often misdiagnosed as autism or cerebral palsy in children. Babies as young as six months may have delayed physical and mental development. Most pediatric patients also typically smile and laugh frequently with no stimulus and require less sleep than other children their age. As they grow, children generally demonstrate speech impediments, coordination issues and seizures. Restlessness, short attention spans, scoliosis (abnormal curvature of the spine), fair complexion and a particular fascination with water are also common indicators of Angelman syndrome.
What causes Angelman syndrome?
Angelman syndrome is not a hereditary disease. The genetic defect responsible typically develops by chance after conception, when the UBE3A gene — also known as the Angelman gene — is missing or malfunctions. A person generally receives one copy of the UBE3A gene from each parent. In most body tissues, both UBE3A genes are active i.e., they produce the ubiquitin protein ligase E3A. However, in select areas of the brain, only the UBE3A gene from the mother is active.
In about 70 percent of Angelman cases, part of the maternal chromosome 15 where the UBE3A gene is found is missing. In a smaller percentage of cases, the maternal chromosome 15 may be present but inactive, or the patient may have inherited two copies of chromosome 15 from the father and a maternal UBE3A gene does not exist, a very rare biological phenomenon called uniparental disomy. In all of these cases, the maternal UBE3A gene required for certain neurologic functions is unavailable.
How is Angelman syndrome treated?
Angelman syndrome currently has no cure. Patients live a normal lifespan but most have learning difficulties and limited speech capabilities. Their quality of life can be improved through medication as well as physical and behavioral therapies.
Experimental treatments in clinical trials are now underway to address seizures, and research is ongoing to potentially restore the function of the UBE3A gene in patients’ brains.
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