Down Syndrome: A Genetic Disorder
Introduction
Down syndrome is a genetic disorder caused by abnormalities in the genome. It is present from birth and is characterized by the presence of a third copy of the 21st pair of chromosomes. Down syndrome affects the physical and intellectual development of individuals, resulting in slower cognitive abilities. While genetic disorders are generally rare, Down syndrome is the most common condition of its kind, occurring in approximately one out of every 1,000 babies born each year. This paper explores the molecular basis of Down syndrome and its origins.
Physical Symptoms
Down syndrome manifests in various physical symptoms, including decreased muscle tone, small ears, nose, and mouth, wide but short hands, and the presence of brush field spots. Children with Down syndrome often have weaker muscle tone, which can delay their development in activities such as sitting, standing, and walking. However, with appropriate care and support, individuals with Down syndrome can engage in physical activities like their typically developing peers.
Intellectual and Developmental Symptoms
Individuals with Down syndrome commonly experience difficulties in understanding, thinking, and learning at a slower pace compared to their peers. While they may eventually develop communication skills, their progress is typically slower. Early speech and language intervention can be beneficial in improving their communication abilities. Despite their developmental delays, individuals with Down syndrome can achieve many developmental milestones, although it may take them longer to do so.
Types of Down Syndrome
Down syndrome can be categorized into three types: trisomy 21 (nondisjunction), mosaicism, and translocation. Trisomy 21 is the most common type, occurring when an embryo inherits three copies of chromosome 21 due to an error during cell division. Mosaicism occurs when the extra copy of chromosome 21 is present in some cells but not all, leading to a mixture of cells with 46 and 47 chromosomes. Translocation accounts for a small percentage of cases and involves a broken chromosome attaching itself to another chromosome, without affecting the total number of chromosomes.
Conclusion
Down syndrome is a genetic disorder characterized by the presence of a third copy of chromosome 21. It affects both the physical and intellectual development of individuals. While there is no cure for Down syndrome, early intervention, proper care, and educational support can significantly improve the quality of life for individuals with this condition. Ongoing research aims to understand the molecular mechanisms underlying Down syndrome and develop potential interventions to mitigate its effects.
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Running head: DOWN SYNDROME 1
Down Syndrome
A genetic disorder, as the name suggests is a genetic problem that arises as a result of one
or many aberrant formulations in the genome, more so a disorder originating from birth. Most
genetic conditions are considered to be quite rare. In that the affected rate is probably one
individual in every several thousand cases. Genetic disorders may not be heritable. Disorders that
are non-heritable, the defects may be as a result of alterations in the DNA. The defects under
such alterations are inheritable. However, it can be possible only if it is formed in the germ line
(Patterson, 2009). This compilation takes a look at the molecular basis of Down syndrome and
how it originates.
Down syndrome
Down syndrome is a genetic disease that results due to the formation of a copy of a third
pair of chromosomes. Down syndrome affects the proper growth of an individual both mentally
and physically. It slows the person’s ability to reason intellectually as the individual grows. For
instance, it is proven that in most cases, the IQ of a young adult suffering from Down syndrome
is around 50. It is the same as an 8-year-old child. Due to technological advancements over the
years, Down syndrome can now be spotted at the early stages of pregnancy. moreover, it is done
by prenatal screening. A follow-up of diagnostics and testing is performed to ascertain the baby
is in a good condition. Ever since prenatal screening was introduced, babies found to show signs
of Down syndrome were terminated. A full scan for health complications associated with Down
syndrome is considered a necessity throughout an individual’s life. Over the years, provision of
basic education as well as proper care of individuals suffering from the down syndrome have
proven to improve their lives significantly in terms of quality. The majority of children with
Down syndrome disorder can be taught in a normal school environment albeit a few minor
adjustments. In some cases, children with the same disorder often require special attention in
order to learn (Weijerman & de Winter, 2010).
A lot of children who attend normal schooling despite having Down syndrome go as far
as a graduating. A few go as far as attending high school despite their condition. It goes to show
that proper care and guidance for individuals with Down syndrome goes a long way (Chapman,
1997). Research goes to show that 20% of individual adults suffering from Down syndrome
attain jobs to a specific capacity. Further, it goes to prove that disability is not inability. We live
in a world where advanced technologies are cropping up every so often. Which such an
environment coupled up with proper health care and maintenance, the life expectancy of
individuals with Down syndrome lies between 50 and 60 years. Down syndrome is considered to
be the most common condition among humans. Research conducted suggests that in every 1000
babies born yearly, one among them must have the Down syndrome disorder. In 1866, the
condition was fully described by a British doctor by the name John Langdon Down. The name of
the condition was later derived from the British doctor.
Signs and symptoms
Symptoms of Down syndrome vary a lot. You may find that what a particular individual
with the condition is experiencing varies from another individual with the same condition.
Despite their age similarities, it goes to show that people with Down syndrome may experience
different problems at different intervals in their lives.
DOWN SYNDROME 3
Physical symptoms
Some common physical symptoms of the disorder include (Bull, 2011):
· Decreased muscle tone
· Rather small ears, nose, and mouth
· Wide but short hands
· Formation of brush field spots
Research has proven that normal children grow and develop faster than children with
Down syndrome. This is because children with the disorder tend to have a weak muscle tone.
Also, this might result in it taking much longer for that child to learn how to sit, stand and even
walk. Despite having such shortcomings, these children have the potential to take part in physical
activities like normal children (Ulrich, Burghardt, Lloyd, Tiernan, & Hornyak, 2011). Children
with Down syndrome may take longer to accomplish the development milestones compared to
other children. But in spite their disadvantage, they are capable of meeting many if not all these
milestones (Down syndrome, 2010).
Intellectual and development symptoms
Problems related to slow understanding, thinking as well as learning are common in
individuals with Down syndrome. Although most children with Down syndrome develop their
communication skills, it is usually slower. This is compared to other children. Children with
Down syndrome condition should be given research essay writers both speech and language lessons earlier on. This
would be helpful in advancing their communication skills (Martin, Klusek, Estigarribia, &
Roberts, 2009).
Down syndrome has been categorized into three different parts. These are;
· Trisomy 21 (nondisjunction)
· Mosaicism
· Translocation
Trisomy 21 (nondisjunction)
The causative agent of Down syndrome is usually an error that occurs during the cells
division process. This error is termed as “non-disjunction.” This is whereby instead of the
usually two chromosomes, an embryo acquires a third copy of chromosome 21.through the
failure of the egg or sperm to separate, and it results in this condition. This happens usually
before or close to conception (Hassol & Jacobs, 1984). The extra set of the chromosome is
DOWN SYNDROME 4
replicated I each and every cell in the development of the embryo takes place. It is proven that
95% of cases fall under this particular type of Down syndrome.
Mosaicism
This type of Down syndrome develops when the extra set of chromosome 21 is only
replicated in one of the cells after fertilization. During this occurrence, two types of cells tend to
mix up. Some of those cells contain 46 of the usual chromosome while others are having 47. The
extra chromosome 21 is contained in the cell with 47 chromosomes (Fishler & Koch, 1991). This
type of Down syndrome accounts for 1% of every case.
Translocation
According to research, 4% of all cases are accounted for by this type of Down syndrome.
In the is particular type, during the process of cell division, one chromosome breaks then
attaches itself to another different chromosome (Jyothy, Mallikarjuna Rao, Kumar, Babu Rao,
Devi, & Reddy, 2002). Despite maintaining the original number of chromosomes, Down
syndrome is caused by the chromosome 21 that attached itself
In conclusion
Over the years; doctors have been tirelessly working to establish a way in which these
genetic disorders can be reversed. Doctors are still looking to find a permanent solution that can
prevent future generations from these genetic disorders. Most diseases are a phenotypic
representation of protein quality and quantity disorders, either at DNA, transcriptional,
translational or post-translational levels.
Running head: DOWN SYNDROME 5
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