Angleman+and+Prada-Willi+Syndrome

=**__Angelman Syndrome:__**=

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What is it? Angelman syndrome is a genetic disorder that mainly affects the nervous system. Kids diagnosed with Angelman syndrome have development disabilities and neurological problems such as mental retardation. Children with Angelman syndrome typically have a happy, nervous behavior with a lot of smiles, laughter, and hand-flapping movements. People with Angelman have a short attention span and it’s hard for them to concentrate. Most affected children also have a hard time sleeping and need less sleep than usual. Some affected people have strangely fair skin and light-colored hair. As the children get older, people with Angelman syndrome become less nervous and are able to sleep better at night. However people with Angelman have intellectual disabilities, speech problems, and seizures throughout their lives. Adults with Angelman syndrome have distinct facial features that are described as "coarse" or might seem rude, but they can’t control it! Also some people develop scoliosis or a large curve or arch in their spine. The life span of people with Angelman appears to be nearly normal.=====

=__**Causes:**__= Angelman syndrome is caused by a missing genetic code on chromosome #15. Angelman syndrome is also very rare. In most cases, researchers don't know what causes the genetic changes that result in a child having Angelman syndrome. Most people with Angelman syndrome don't have a family history of the disease. In a small percentage of cases, however, Angelman syndrome may be inherited from a parent, so a family history of the disease may increase a baby's risk of developing Angelman syndrome. Normally, only the mother copy of the UBE3A gene is active in the brain. Most cases of Angelman syndrome occur when part of the mother's chromosome 15, which contains this gene, is missing or damaged. In a small number of cases, Angelman syndrome is caused when two father copies of the gene are inherited, instead of one copy of the gene from the mom and one from the dad. As you noticed Angelman and Prader Willi syndrome have both a defect in chromosome 15. If the abnormal chromosome comes from the father(paternal) you get Prader Willi syndrome. But if the abnormal chromosome comes from the mother(maternal) you get Angelman! =__**Symptoms:**__=
 * Developmental delays, such as lack of crawling or babbling at 6 to 12 month
 * mental retardation
 * Little or no speech
 * unable to walk, move or balance well (ataxia)
 * Shaky movement of arms and legs
 * Very smiley
 * Lots of laughter
 * Happy and nervous personality
 * Scoliosis
 * Hard time concentrating
 * Speech problems
 * Seizures
 * Stiff or jumpy movements
 * Small head size with flatness in the back of the head (microbrachycephaly)
 * Going cross eyed (strabismus)[[image:Angelman_syndrome.png width="180" height="201" align="right"]]
 * Tongue thrusting
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: baseline;">Walking with arms up in the air
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: baseline;">A lower jaw that juts out
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: baseline;">Light pigmentation in hair, skin and eyes (hypopigmentation)

=**__Research and Treatment:__**=

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Currently, there is no treatment for children with Angelman syndrome.There can be different theropy's the kids can take to improve on their skills like medical, physical, communicational, occupational theropy. The NINDS supports and conducts research on neurogenetic disorders like Angelman syndrome, to develop techniques to diagnose, treat, prevent, and ultimately cure them.media type="youtube" key="ETMW0lExCgs" align="right" width="425" height="350"=====

[|Click here to watch a video on the pretty simple world of an Angelman]

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 * < <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: baseline;">**<span style="background-color: transparent; color: #000000; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: baseline;">__<span style="background-color: transparent; color: #0066cc; font-family: Times New Roman; font-size: 16px; text-align: left; vertical-align: baseline;">[|Angelman] __ **
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: baseline;">Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.
 * <span style="background-color: transparent; color: #000000; display: block; font-family: Times New Roman; font-size: 16px; text-align: left; text-decoration: none; vertical-align: baseline;">Harry Angelman first explained the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter."
 * =====People resemble kids with Angelman syndrome to "Happy Puppets"=====

Claudia Lucciola
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