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Angelman Syndrome

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Madeline Gullen

on 29 January 2013

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Transcript of Angelman Syndrome

Angelman Syndrome What is it? Angelman Syndrome is a somatic cell mutation that effects the body and the mind. From the color of the hair, to basic personality traits, to even something as simple as swallowing, Angelman Syndrome affects its victims. The Genetics of AS Treatment Support Groups Thanks for watching! By Malia Campos, Sam Dolan, Maddie Gullen, and Erin Mank. Internet Groups Causes Angelman Syndrome is caused by a mutation on chromosome 15. Chromosome 15 alone can have between 650-1000 genes, including UBE3A. When gene UBE3A is altered in any way, whether it be deletion of the gene on the maternal chromosome, an extra copy of the paternal gene, imprinting where the maternal gene is "blank", or a mutation in the gene itself, Angelman Syndrome is expressed. Because this affects the whole chromosome pair, a person with Angelman Syndrom has 44 chromosomes, or 22 pairs. The mutation usually occurs during embryonic formation, though in a few instances, it is inherited through a mutation in mom or dad's gametes. Effects Because of that one mutation, a whole host of things all around the body are affected, such as:
-delayed development -sometimes hypermotoric
-difficulty in speech -usually happy
-mental retardation -teeth spaced widely apart
-short attention span -hair/skin lightly colored
-low level of motor skills -swallowing/sucking issues Below are pictures of those with Angelman Syndrome at all different ages. Though Angelman Syndrome is a life long condition and is not lethal, there is no cure, and no way of preventing it, only treatments to buffer some of the bigger problems. For example there is anti-seizure medication, physical therapy, communication therapy, and behavior therapy all geared towards Angelman Sydrome. Support groups specialized for Angelman Syndrome are found all around the world, along with support groups for anyone taking care of someone with any form of special needs. In fact, there is one in San Jose called Parents Helping Parents. Their goal is to give in person support to help parents of children with Angelman Syndrome and answer any questions. Because we are in the technology age, some support groups are online. For example People Helping People is an online forum for asking questions Sources Information: Pictures: "Angelman Syndrome Causes, Symptoms, Diagnosis, and Treatment Information on MedicineNet.com." MedicineNet. Ed. Melissa Conrad Stoppler. N.p., n.d. Web. 27 Jan. 2013. <http://www.medicinenet.com/angelman_syndrome/article.htm>.

"Chromosome 15." - Genetics Home Reference. N.p., 17 Jan. 2013. Web. 27 Jan. 2013. <http://ghr.nlm.nih.gov/chromosome/15>.

"Genetica Lens - Genetics of Angelman Syndrome." Genetica Lens - Genetics of Angelman Syndrome. The Angelman Project, n.d. Web. 27 Jan. 2013. <http://www.angelmanproject.com/genetics.htm>.

Staff, Mayo Clinic. "Angelman Syndrome- Treatments and Drugs." Mayo Clinic. Mayo Foundation for Medical Education and Research, 17 Jan. 2012. Web. 27 Jan. 2013. <http://www.mayoclinic.com/health/angelman-syndrome/DS01048/DSECTION=treatments-and-drugs>.

"Children's Health." Angelman's Syndrome. N.p., n.d. Web. 27 Jan. 2013.

"Angelman Syndrome." Angelman Syndrome. N.p., n.d. Web. 27 Jan. 2013

"PHP | Parents Helping Parents." PHP | Parents Helping Parents. N.p., 2007. Web. 27 Jan. 2013.

"Angelman Syndrome Support Group." Subscribe to Angelman. N.p., 2006. Web. 27 Jan. 2013.

"Angelman Syndrome." Zimbio. N.p., 2013. Web. 27 Jan. 2013.

"Angelman." Syndrome Foundation, Inc. â Research, Genetic Counseling, Diagnosis, Seizures, S Syndrome Association -. N.p., n.d. Web. 27 Jan. 2013 Boy with AS. Digital image. Prime Health Channel. N.p., n.d. Web. 27 Jan. 2013. <http://www.primehealthchannel.com/angelman-syndrome-symptoms-pictures-causes-life-expectancy-and-treatment.html>.
Child with AS. Digital image. Angelman Project. Angelman Project, n.d. Web. 27 Jan. 2013. <http://angelmanproject.com/whatisangelman.htm>.

Girl with AS. Digital image. Angelman Syndrome Foundation. N.p., n.d. Web. 27 Jan. 2013. <http://www.angelman.org/>.
Man with AS. Digital image. Bleach Anime. N.p., n.d. Web. 27 Jan. 2013. <http://www.bleachanime.org/forums/showthread.php?t=42986>.

Parents Helping Parents. Digital image. Vimeo. N.p., n.d. Web. 27 Jan. 2013. <http://vimeo.com/user8902631>.
People Helping People. Digital image. Vimeo. N.p., n.d. Web. 27 Jan. 2013. <http://vimeo.com/27358727>
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