Angelman Syndrome Research Paper

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Angelman Syndrome Angelman syndrome or often called AS is a rare and complex disease that effects the nervous system. This disease occurs when there is a defect or the body is missing the enzyme Ubiquitin-protein ligase E3A (UBE3A). Inherited from the mother, the gene UBE3A is responsible for protein degradation, where proteins are sought after and removed if damaged or unused and helps maintain cell function. Another causative is a deletion in chromosome15 and is the second most looked at reason for cause. Generally this genetic disease includes developmental delays, learning disabilities and neurological problems. Symptoms range from speech disabilities (limited use of words), Ataxia (muscle coordination and balance difficulties),…show more content…
Normally it is noticed first in trouble feeding the infant due to issues with muscle control used to suck. Children typically begin to start walking between the ages of three and five. One in every 12,000 to 20,000 individuals are born with AS. Testing to confirm a case is generally done by a blood test to determine if the gene is active or imprinted and this test is known as methylation testing. Most people with Angelman syndrome have confirmed cases from this test and the cost ranges about three hundred dollars. There is no known cure at this time. People with AS will require assistance permanently. Living situations should be catered to by the special needs of each person. Safety is highly important as seizures and behavioral problems can result in harm or injury to the child. Medications may be given to help treat symptoms such as seizures and sleeping difficulties as well as hyperactivity. Physical therapists may be utilized to maintain range of motion, muscle, joint and bone related issues. The risk for obesity may increase as the child gets older from lack of movement caused by the disease. Wheelchairs may be required depending on the severity of immobility. The life span of an individual living with AS is of normal age range and death is not associated with the illness. In 1965 Angelmans syndrome was identified by Harry Angelman a British Doctor, in which the original name was called happy puppet syndrome and later renamed after him. The Medical billing code for Angelmans Syndrome in ICD-10 is Q93.5 and listed as “Other deletions of part of a

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