Angelman Syndrome – Essay Example

Angelman Syndrome – Essay Example

There is usually a loss of immunity and vulnerability to infections. Most of them also will have abnormal small-sized heads. The excitement and abnormal laughter with smiling faces are so loud that communicate the presence of this disorder. Affected children are usually disturbed mentally that they do not get enough sleep. As they grow up, the victims become less and less excited and get enough sleep, but remain slow in reasoning and worse in oral communication ability. Angelman Syndrome – Essay Example .Adults have a severe vulnerability to infection in their entire life.
A pediatric doctor called Harry Angelman first discovered Angelman syndrome. Dr. Harry took a keen look at the characteristics of a number of children and observed that their features resembled. They were smiling anyhow with delayed mental abilities. Moreover, they were speechless and vulnerable to infections. All of them looked like in the face. As a result of these features, he initially gave the syndrome the name “Happy Puppet Syndrome”. Later on, the name transformed to what is referred to as “Angelman Syndrome”. The University of Florida became the first to carry out research on this disorder in 1980 when the information about Angelman syndrome first reached the United States of America. The University later discovered that a gene was missing on maternal chromosome 15, and this was during the late 1980s. Doctors Joseph Wagstaff and Arthur Beaudet discovered later in their research that the missing gene is UBE3A (Hewitt 3). Angelman Syndrome – Essay Example .
Angelman syndrome is caused by suppression or lack of a certain gene called UBE3A, which is a protein inherited from the mother. This gene is very important in various parts of the brain. It imprints the genome in the majority of the nerves of the brain. As a result, failure, or inadequate expression of this gene leads to intellectual inability in the affected people, and thus, it is significant to have this fundamental gene active. UBE3A gene from the father’s chromosome is inherited, coupled with the one from the mother. However, naturally, the paternally inherited UBE3A gene is suppressed due to the antisense RNA of UBE3A present on the paternal chromosome. This renders the maternal gene the only hope. New research on Angelman syndrome has shown that a small number of people with Angelman syndrome are suffering from a certain gene mutation. This mutation, which occurs on the TCF4 gene, is responsible for a number of features on the patients. Most of them are mentally retarded, big mouths, overhanging lips, and pointed nose. Some of the Angelman syndrome victims may have trouble in inhalation and exhalation. Therefore, it is advisable to screen the Angelman syndrome patients for TCF4 gene mutation in order to avoid recurrent health problems, shall the patient start undergoing treatment (Hewitt 4).


What is Angelman syndrome? This is a complex disorder, which is hereditary and mainly affects a person’s nervous system. In most cases, this disorder manifests through late development, severe challenges with speech, intellectual disability, and ataxia, which is difficulty with locomotion and balance. Additionally, children with Angelman syndrome often experience seizures and a smaller head than the normal size. At the age of six to twelve months, it is possible to notice these delayed development attributes. Moreover, some signs and symptoms may be noticed during early childhood stages as the kid develops. Angelman Syndrome – Essay Example .

It is important to note that children who have this syndrome are always happy and smiling, coupled with laughter and frequent flapping of hands. It may also be accompanied by hyperactivity poor attention and being fascinated by water. In most cases, these children experience challenges with sleep and require less sleep than others require. However, as one progresses in age, some of these manifestations become mild. For example, they may no longer be over excited over nothing and they improve sleeping patterns. Nonetheless, some of the childhood development challenges extend into adulthood, including intellectual incapacitation, speech impairment, and seizures. These do not change and the person lives in this state throughout their lives. In most cases, adults who suffer from Angelman syndrome have unique facial features, which some people describe as ‘coarse’. Additionally, they may have fair skin, characterized by light-colored hair and scoliosis, which demotes unusual side-to-side curvature of the spine.

Is there cause for alarm about Angelman syndrome? How prevalent is Angelman syndrome?

According to research, Angelman syndrome affects 1 person out of 10,000 to 20,000. Therefore, its prevalence is low. While this is the cases, Angelman syndrome results into changes of your genetic material, which is passed on to future generations. In particular, it results into the loss of UBE3A, which is a gene. It is worth noting that normally, someone will inherit a copy of this gene from his or her parents.Angelman Syndrome – Essay Example .  Thus, most people have this gene active in their bodies. Nevertheless, there are cases when only the copy inherited from the mother or the maternal copy of the gene is active in the brain. This situation, where only one copy of the gene inherited from the mother is active is called by genomic imprinting. In cases where a person loses the maternal gene due to mutation or chromosomal changes, such individuals will not have active copies of the gene in their brains.

It is important to note that some genetic mechanisms can lead to the inactivation or deletion of the gene copy from the mother. Research shows that 70% of Angelman syndrome cases that occur, stem from deletion of chromosome 15, which always carry the gene. On the other hand, about 11% of the cases are caused by gene mutation of UBE3A from the mother. In other cases, which are small, a child may develop Angelman syndrome for inheriting two copies of chromosome 15 from the father, instead of having one from both parents. This is called uniparental disomy. In rare cases, Angelman syndrome could be caused by translocation or mutation of DNA material, which is responsible for the activation of UBE3A.

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