Angelman Syndrome
Angelman Syndrome
By Ciera Carr
Dr. Glimps
2006
Carr 1
Ciera Carr
Dr. Glimps
Research Paper
Angelman Syndrome
Angelman syndrome is a genetic disorder that is caused by a couple of different attributes. The first one is “a deletion on chromosome 15 of maternal origin or paternal uniparental disomy”(Curfs, 2004, p. 1263). There has also been found that some people with the disorder have no deletion on the chromosome at all. Angelman syndrome was first discovered in 1965 by a doctor named Harry Angelman. Back then, the syndrome was termed “happy puppet” because of the clinical features of the disorder(Clarke, 2000, p. 25). There are many distinct characteristics of the disorder, these include, low birth weight, neonatal feeding problems, gastro esophageal reflux in childhood, and poor weight gain in infancy. Facial characteristics usually are thin upper lip, protruding tongue, wide mouth, widely spaced teeth, and pointed chin. When dealing with motor
Carr 2 development, there legs are usually widely based and stiffed-legged, flapping hands, and jerky movements. The main characteristic of Angelman Syndrome is the inappropriate bursts of laughter(Clarke, 2000, p. 25). Many people are diagnosed with Angelman syndrome early, whether it be prenatal or early infancy. This is because it is very easy to notice the characteristics in people and to find the missing chromosome. A lot of the times with this disorder, the person will have seizures and epilepsy; this occurs in more than 80% of people affected (Clarke, 2000, p. 25). This whole syndrome causes problems in communication as well. This could be the most intense problem that doctors, parents, and speech therapists have to deal with concerning people with Angelman syndrome. Communication is not very common among people with Angelman syndrome. Most people do not have the mind set or ability to focus long enough to learn any type of communication skills. There have been many tests to try
By Ciera Carr
Dr. Glimps
2006
Carr 1
Ciera Carr
Dr. Glimps
Research Paper
Angelman Syndrome
Angelman syndrome is a genetic disorder that is caused by a couple of different attributes. The first one is “a deletion on chromosome 15 of maternal origin or paternal uniparental disomy”(Curfs, 2004, p. 1263). There has also been found that some people with the disorder have no deletion on the chromosome at all. Angelman syndrome was first discovered in 1965 by a doctor named Harry Angelman. Back then, the syndrome was termed “happy puppet” because of the clinical features of the disorder(Clarke, 2000, p. 25). There are many distinct characteristics of the disorder, these include, low birth weight, neonatal feeding problems, gastro esophageal reflux in childhood, and poor weight gain in infancy. Facial characteristics usually are thin upper lip, protruding tongue, wide mouth, widely spaced teeth, and pointed chin. When dealing with motor
Carr 2 development, there legs are usually widely based and stiffed-legged, flapping hands, and jerky movements. The main characteristic of Angelman Syndrome is the inappropriate bursts of laughter(Clarke, 2000, p. 25). Many people are diagnosed with Angelman syndrome early, whether it be prenatal or early infancy. This is because it is very easy to notice the characteristics in people and to find the missing chromosome. A lot of the times with this disorder, the person will have seizures and epilepsy; this occurs in more than 80% of people affected (Clarke, 2000, p. 25). This whole syndrome causes problems in communication as well. This could be the most intense problem that doctors, parents, and speech therapists have to deal with concerning people with Angelman syndrome. Communication is not very common among people with Angelman syndrome. Most people do not have the mind set or ability to focus long enough to learn any type of communication skills. There have been many tests to try
References: Bacino, CA, Beaudet, AL, Madduri, N, Peters, SU. (2004). Autism in Angelman syndrome: implications for autism research. Clinical Genetics. Retrieved November 3, 2006, from http://www.wilsonweb.com Calculator, Stephen. (2002). Use of Enhanced Natural Gestures to Foster Interations Between Children With Angelman Syndrome and Their Parents. American Speech-Language-Hearing Association. Retrieved November 3, 2006, from http://www.ebsco.com Clarke, David J., Marston, Geoff. (2000). Problem Behaviors Associated With 15q- Angelman Syndrome. American Journal on Mental Retardation. Retrieved November 3, 2006, from Carr 8 http://www.wilsonweb.com Curfs, LMG, Diddin, R, Duker, P, Korzilius, H. (2004). Communicative functions in individuals with Angelman Syndrome: a comparative study. Disability and Rehabilitation. Retrieved November 3, 2006, from http://www.ebsco.com Lombroso, Paul. (2000). Genetics of Childhood Disorders: XVI. Angelman Syndrome: A Failure to Process. Development and Neurobiology. Retrieved November 3, 2006, from http://www.wilsonweb.com Seelig, Richard. (2006, May). New Technology Provides Urgent Medical Information and Protects Privacy: Providing Important Information in Medical Situations for the Developmentally Disabled. EP Magazine. Retrieved November 3, 2006, from Carr 9 http://www.eparent.com