Angelman+Syndrome

=Angelman Syndrome=

Angelmans Syndrome is neuro-genetic disorder. It affects the human brain since in infancy and impairs the main motor functions and intellectual capability of its victim. Its victim may also have sleeping impairment, twitchy or jerky limbs and persistently happy character, smiling over nothing with frequency. People with Angelmans are always unable to speak fluently develop further on non-verbal communication. They usually have inappropriate growth in the head circumference and under development in the brain. Their face tend to look a bit unusual with grotesque development in the mouth gums and cheeks. The following list features of Angelman syndrome and their relative frequency in affected individuals. **Consistent (100%)** **Frequent (more than 80%)** **Associated (20 - 80%)** (wikipedia)
 * **Developmental delay, functionally severe**
 * **Speech impairment, no or minimal use of words; receptive and non-verbal communication skills higher than verbal ones**
 * **Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs**
 * **Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span**
 * **Delayed, disproportionate growth in head circumference, usually resulting in microcelaphy (absolute or relative) by age 2**
 * **Seizures, onset usually < 3 years of age**
 * **Abnormal EEG, characteristic pattern with large amplitude slow-spike waves**
 * **Strabismus**
 * **Hypopigmented skin and eyes**
 * **Tongue thrusting; suck/swallowing disorders**
 * **Hyperactive tendon reflexes**
 * **Feeding problems during infancy**
 * **Uplifted, flexed arms during walking**
 * **Prominent mandible**
 * **Increased sensitivity to heat**
 * **Wide mouth, wide-spaced teeth**
 * **Sleep disturbance**
 * **Frequent drooling, protruding tongue**
 * **Attraction to/fascination with water**
 * **Excessive chewing/mouthing behaviors**
 * **Flat back of head**
 * **Smooth palms**

**Cause of the Condition**
This condition is usually caused by the deletion inactivation of the genes in chromosome number 15. Every individual has a 15th chromosone which is created by a contributuion of both the mother and the father. While the parental contribution to this chromosone is healthy, the maternal contribution is missing or damaged. Angelmans syndrome could potentially be the result of a mutation a single maternal gene on the fifteenth chromosone. Some cases of Angelmans syndrome may also be a result of both genes (parental and maternal) of the 15th chromosone being damaged. On some ocasions, Angelmans syndrome has been the result of a random damaged gene completely unrelated to chromosone 15. Nonetheless these cases can be rare. There is little if any knowledge as too what actually causes the 15th chromosone to have the failed or deleted genes. Although research has been made, results have proven no behavioural pattern in the people who´s offspring has Angelmans syndrome.

To the right is a diagram of chromosone 15 and how it is affected in people that are diagnosed with angelmans syndrome. Allthough most of the genes are correct in this diagram, just a handfull of them can change the whole code and deliver to its victim a disorder such as AS.

Bennefits and Limitations
Angelmans syndrome is defenitely a very serious and a very troublesome condition. Solving it is no simple task, in fact, there is no way to cure it. The side effects of angelmans syndrom, like epilepsy may be administered with separate medication but there is little or no way to aid the actual condition itself. Then again, even controlling the seizures is a problem because the seizures in a person suffering from angelmans syndrome have various causes and cannot be stopped by a singe from of medication. This is one of the most severe symptoms of AS but still, other symptoms can also be both a health hazard and a hassle and must be controlled by other means which are often not so easily obtained. People with AS are also usually aflicted with disfunctional bowel syndrome which is whole other condition that has to be dealt with. Because of their gene failure, the information to process food and nutrients is slow and disfucntional and therefore needs hindering by means of laxatives or other bowel quickening implement.

Although it may seem as if AS is a helpless condition, there is actually tons that one may do in order to enhance the lives of those who suffer from it. Primarily, there are a lot of institutions in the US alone that provide not only medical assistance but communitarian assistance for children and adults alike who suffere from this condition. They partake in activities to improve and gain social skills. They are entretained with all sorts of games and even thought they might never completely master their communicative skills, there is always space for practice and improvement in the way these people communicate. It has been proven that extensive practice does lead to the significant improval of a AS patient. Another controversial yet potentially debatable "bennefit" of AS is the fact that in its nature it creates individuals that are usually perpetually happy. Now although this may seem as a strange way to look at the matter since the hapiness in these individuals may be deemed artificial, it still does not change thae fact that these people do not suffer from a young age with the painstaking process of adapting, since even though it is mentally exhausting for them, the cheamical reactions produced in their brains to create hapiness is far more active than in a human being. So if you think for the good of the diagnosed individual, then it might be discussable whether or not this mya be considered a positive atribute of always being happy, or a curse of of having to live in artificiallity.



Economical and Social involvement
Angelmans syndrome is something very present and very serious in society today. More than a million people are diagnosed with this genetic disorder worldwide every year. It is everywhere, even in social media and in celbreties. Many famous individuals have relatives or children with Angelmans Syndrome, thing which is often exploited by sensationalist press as an easy way to make interesting articles. This leads me to the social involvement of this condition. People with Angelman Syndrome are often mistreated and discriminated. People with under education usually do not take proper care of their sick children during infancy, and in parts of the world with low education, children suffer the abuse and discrimination of uneducated parents. Sometimes, in tribal religons AS is sometimes seen as a divine message of punishment or of something diabolical. Although this is rare, it does present itself as an issue. On the brightside, there is a lot of communitarian work to be done with theses individuals, and as a great source of community and service, this is not only benneficial to the patients but also to the people who choose to help out. There is also an economical side to this equation which is the one related to medicine, investments in medicine, and all sorts of genetic research which in one way or the other relate to syndromes like this one. Genetic research is a multimillion dollar buisness that takes hundreds of hours of work every year from thousands of talented scientists. As there is no present cure for Angelmans Syndrome, research not only goes into finding it potentially but also into developing treatments and therapies for the symptoms of AS that may not be fisically cured. Research like this is excruciatingly hard and timestaking and is a very large scale project in the US alone. The government spends millions of dolars into the investigation of such treatments and that is why conditons like Angelmans syndrome have a connection to economy.

Works Cited Works Cited “Angelman Syndrome.” //Wikipedia//. N.p., n.d. Web. 13 Mar. 2012. . “Home.” //Angelmans Syndrome Foundation//. N.p., n.d. Web. 13 Mar. 2012. . “What is Angelmans syndrome?” //Angelman Syndrome Foundation//. N.p., n.d. Web. 13 Mar. 2012. .