Sample Essay on Angelman Syndrome

Angelman Syndrome

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.

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. 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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