book

Neuro-Genetic Disorder: Angelman Syndrome

21 Pages 905 Words 1557 Views

Angelman Syndrome is a neuro-genetic disorder caused by the deletion or mutation of the maternally inherited chromosome 15 in gene UBE3A. Angelman syndrome occurs in 1 in 15,000 live births. (Angelman Syndrome Foundation) People with Angelman Syndrome have a normal life expectancy, but do require life long care. Some characteristics of Angelmans are intellectual disability, severe speech impairment or lack of speech, ataxia, epilepsy, a small head, and an extremely happy deme. Due to similarity in characteristics Angelman Syndrome is often misdiagnosed for Cerebral Palsy, Prader- Willi Syndrome (caused by the deletion of the paternally inherited 15th chromosome), and Autism. Misdiagnosis often leads to late intervention in children who have Angelman Syndrome. Late intervention leads to fewer opportunities in education, speech, and physical development. A blood test is the best way to diagnose Angelman Syndrome, as it tests whether the gene (UBE3A) where the maternally inherited chromosome 15 is located, is functioning properly or at a complete deletion. The blood test diagnoses about 80-85% of the Angelmans population. The other 15-20% are diagnosed on a clinical level, with interviews and observation as the main criterion. The general age of diagnosis of angelman syndrome is anywhere from two to five years. The intellectual level of people with Angelman Syndrome relies heavily on either complete deletion, or partial deletion of chromosome 15. Children with Angelman Syndrome are described as happy, smiling, laughing, excitable, with many jerky body movements. Due to their excitable nature sleep disorders are fairly common in individuals with Angelman Sydnrome. However with age, individuals become less excitable and often their sleep issues will subside. These characteristics are why Harry Angelman in 1965 called his first three clinical cases of what is now known as Angelman Syndrome, “Happy Puppet Children”. In 1982 the name was

Read Full Essay