Angelman Syndrome Research Papers
Research Paper 2: Angelman Syndrome Angelman Syndrome (AS) also known as Happy Puppet Syndrome was originally founded in 1965 by an English physician named Dr. Harry Angelman. (NORD 1) According to the Genetics Home Reference, “AS is a complex genetic disorder that primarily affects the nervous system”.While exact numbers are unknown due to the fact that some cases are misdiagnosed as cerebral palsy or Autism, it is believed that about 1 in 15,000 people have AS,
( Genetics Home Reference 2) and is equally common in boys and girls. AS is normally diagnosed between the ages of one and four years of age. According to the National Organization of Rare Disorders (NORD), “A diagnosis of AS may be made based upon a detailed patient history, a thorough clinical evaluation, and …show more content…
In approximately ten percent of cases, no cause can be identified. In most cases of AS, genetic changes appear to occur randomly, but in about three to five percent of cases they can be inherited”. About seventy to seventy-five cases are caused by a microdeletion of region 15q11-13, about three to five percent is caused by a defect in genetic imprinting, about two in five percent is caused by uniparental disomy, and ten to twenty percent is caused by mutations within UBE3A. (NORD1) While there is no known cure for AS, intensive therapies including: speech, behavior modification, communication, occupational, physical, social skills training, and antiepileptic medication have proven helpful. (Better Health Channel 3)
Work Cited Page
"Angelman Syndrome." NORD (National Organization for Rare Disorders). N.p., n.d. Web. 29 Mar. 2017.
"Angelman syndrome - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, n.d. Web. 29 Mar. 2017.
"Angelman Syndrome." Better Health Channel, 2016. Web. 29 Mar.
( Genetics Home Reference 2) and is equally common in boys and girls. AS is normally diagnosed between the ages of one and four years of age. According to the National Organization of Rare Disorders (NORD), “A diagnosis of AS may be made based upon a detailed patient history, a thorough clinical evaluation, and …show more content…
In approximately ten percent of cases, no cause can be identified. In most cases of AS, genetic changes appear to occur randomly, but in about three to five percent of cases they can be inherited”. About seventy to seventy-five cases are caused by a microdeletion of region 15q11-13, about three to five percent is caused by a defect in genetic imprinting, about two in five percent is caused by uniparental disomy, and ten to twenty percent is caused by mutations within UBE3A. (NORD1) While there is no known cure for AS, intensive therapies including: speech, behavior modification, communication, occupational, physical, social skills training, and antiepileptic medication have proven helpful. (Better Health Channel 3)
Work Cited Page
"Angelman Syndrome." NORD (National Organization for Rare Disorders). N.p., n.d. Web. 29 Mar. 2017.
"Angelman syndrome - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, n.d. Web. 29 Mar. 2017.
"Angelman Syndrome." Better Health Channel, 2016. Web. 29 Mar.