Kaitin Tovo 4/22/15 6th Bennett, Yeager

Angelman Syndrome (AS, or “puppet syndrome”)

Two hundred and eighteen million dollars are spent on Autism each year, but for a Syndrome called Angelman Syndrome less than five hundred thousand dollars are spent. Louie is a young thirteen year old male from Davidson County, he has Angelman Syndrome, also known as AS, or “Puppet children”. AS is a rare congenital disorder characterized by mental disability and a tendency toward jerky movement, caused by the absence of certain genes that are normally present on the copy of chromosome 15, inherited from the mother. Most kids with Angelman Syndrome don’t sleep well, but Louie sleeps all on his own for a decent amount of time. His parents have to have …show more content…
The cause of this disorder is a problem with chromosome number 15. In the case of deletion, Uniparental disomy (UPD), Imprinting, UBE3A Mutation. Most people don’t have family history. AS is a genetic disorder on the gene UBE3A, on chromosome number 15. With AS there is not a population that is more affected than the other, girls have the same chance as boys, colored people have the same likely as whites, and any other race. They all have the same chance as the other. There are some different tests that they can do to try to help with the syndrome, but there is nothing that can do to make this completely disappear. Some of the different tests that they use are Standard Chromosome Analysis or Cytogenetics Analysis, The DNA methylation test, The FISH test, PCR Assay to detect uniparental disomy (UPD) and imprinting center defects (ICD), UBE3A Sequencing, Clinical Diagnosis, Differential Diagnosis. Parents usually find out when their children have AS when they are 6-12 months old. The children start to have seizures when they are two to three years old. Some children don’t have seizures, but some do and they can take medication to help limit the seizures. Most children need 24/7