Angelman Syndrome : The Happy Puppet Syndrome

Edward’s Syndrome or also known as Trisomy 18 is a very serious and uncommon disorder, and there are three types of this disorder: Full, Partial, and Mosaic Trisomy 18. Trisomy 18 is a chromosomal condition that affects not only one part of the body, but usually many different limbs. Five to ten percent of the individuals with this disorder can live their lives with it, but they have to deal with severe disabilities. Since Edward’s Syndrome is not common, there are only a few solutions for the disease (Weiss 2012).

This syndrome's characteristics of the disorder include developmental delays such as lack of speech, seizures, and delay in walking and balance. In the article Genetic Home Reference, it says “Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements.”. This means that people with Angelman Syndrome will tend to be happy most of the time. In the online article NORD about Angelman syndrome, it said how “ Additional symptoms may occur including seizures.”. Unfortunately Angelman syndrome is not curable. Eventually, people with Angelman will need life long care because of all the disabilities that are caused. People with Angelman Syndrome are sometimes referred to as "angels", both because of the syndrome's name and because of their youthful, happy appearance. Taking care of someone with Angelman syndrome is very tiring because it's like taking care of a baby forever. Many may ask themselves why it is even worth putting in the effort because eventually they are not going to be anything in

Some of the most common symptoms include a of loss inhibition (saying or doing things which are socially inappropriate), reduced empathy (problems understanding and responding to the needs of others), problems with planning and organising activities, increased distractibility, changes in food preference (a propensity to eat large quantities of sweet food) and a tendency to develop compulsive rituals (e.g. watching the same movie repeatedly).

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

Victims can suffer from symptoms like being agitated, aggressive, or becoming withdrawn and uncommunicative. Victims could also start showing sings normally associated with illnesses such as dementia like rocking and biting. In children the signs and symptoms could be similar to those shown in adults – they can become withdrawn, aggressive and truancy from school can become the norm.

Signs and symptoms according to Medline Plus: mottling, excessive crying, irritability, excessive sucking, poor feeding, poor weight gain, hyperactive reflexes, trembling, increased muscle tone, raid breathing, vomiting, diarrhea, seizures, sleep problems

Angelman syndrome is thought to be caused mainly by the deletion of the maternally inherited copy of UEB3A. A small number of cases are also caused by failures in imprinting or, very rarely, monosomy 15 in the egg and disomy 15 in the sperm. The profound mental effects are caused by this gene due to the fact that, while UEB3A’s protein is active in various bodily tissues, only the mother’s copy of the gene is active in the brain.

Angelman Syndrome: Angelman system is caused by genetics inherited from the mother. A person’s body and appearance is all decided by a component within a person’s

The symptoms of Asperger’s are some of the following. They usually are socially and emotionally inappropriate. They lack the ability of being able to interact with other individuals successfully. They have a peculiar use of language and speech. They sometimes speak in

The relationship between Asperger syndrome and autism has been a controversial topic in psychology. There is not a definite correlation which has been decided upon between the two and chiefly due to the fact that they are both overly similar. Concisely, psychologists seek to identify the main difference between them. In a simpler way, it is not yet clear whether autism and Asperger syndrome should be defined as independent (distinct) terms, or whether Asperger syndrome should be categorized under the wider realm of autism. In their researche, multiple scholars have come upon differing opinions and theories in support of their own perceptions of the two disorders which either agree or disagree at some point. Asperger syndrome is derived from Hans Asperger who is highly recognized for his efforts in defining the disease which many scholars had described as not diagnosable (Mayes, Calhoun & Crites, 2001).

suspected a neurological fault, he could not find proof and suggested initially that autism might have been psychogenic. His initial findings convinced

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are both congenital neurological disorders that cause physical and mental impairment. There are many ways to get AS and PWS, but genomic imprinting is the most common cause. AS is typically misdiagnosed as Cerebral Palsy or Autism and symptoms for AS and PWS may vary between patients. There is no cure for AS or PWS, but physical and mental therapy can help.

Two hundred and eighteen million dollars are spent on Autism each year, but for a Syndrome called Angelman Syndrome less than five hundred thousand dollars are spent. Louie is a young thirteen year old male from davidson county, he has Angelman Syndrome, also known as AS, or “Puppet children”. AS is a rare congenital disorder characterized by mental disability and a tendency toward jerky movement, caused by the absence of certain genes that are normally present on the copy of chromosome 15, inherited from the mother. Most kids with Angelman Syndrome don’t sleep well, but Louie sleeps all on his own for a decent amount of time. His parents have to have someone that sleeps at the house so that they can help out with Louie. She watches him twenty hours a week. Even though Louie has this disorder he is still doing many things just like children who don’t have the syndrome, Louie is a great kid!

Angelman Syndrome is a rare and uncommon brain disorder that occurs once in about every 15,000 births. This primarily affects the nervous system. Many symptoms occur because of the loss of the function of a gene called UBE3

The characteristics typical of Angelman syndrome derive from the "loss of function of a gene called UBE3A" which is derived from the mother (Stรถppler 2012). "People normally inherit one copy of the UBE3A gene from each parent" and both are activated in most of the body (Angelman syndrome, 2011, Genetics Home Reference). However, "in certain areas of the brain...only the copy inherited from a person's mother (the maternal copy) is active...If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will