Down Syndrome: A Genetic Disorder<\/p>\n
Introduction
\nDown 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.<\/p>\n
Physical Symptoms
\nDown 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.<\/p>\n
Intellectual and Developmental Symptoms
\nIndividuals 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.<\/p>\n
Types of Down Syndrome
\nDown 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.<\/p>\n
Conclusion
\nDown 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.
\n_____________________________
\nRunning head: DOWN SYNDROME 1
\nDown Syndrome
\nA genetic disorder, as the name suggests is a genetic problem that arises as a result of one
\nor many aberrant formulations in the genome, more so a disorder originating from birth. Most
\ngenetic conditions are considered to be quite rare. In that the affected rate is probably one
\nindividual in every several thousand cases. Genetic disorders may not be heritable. Disorders that
\nare non-heritable, the defects may be as a result of alterations in the DNA. The defects under
\nsuch alterations are inheritable. However, it can be possible only if it is formed in the germ line
\n(Patterson, 2009). This compilation takes a look at the molecular basis of Down syndrome and
\nhow it originates.
\nDown syndrome
\nDown syndrome is a genetic disease that results due to the formation of a copy of a third
\npair of chromosomes. Down syndrome affects the proper growth of an individual both mentally
\nand physically. It slows the person\u2019s ability to reason intellectually as the individual grows. For
\ninstance, it is proven that in most cases, the IQ of a young adult suffering from Down syndrome
\nis around 50. It is the same as an 8-year-old child. Due to technological advancements over the
\nyears, Down syndrome can now be spotted at the early stages of pregnancy. moreover, it is done
\nby prenatal screening. A follow-up of diagnostics and testing is performed to ascertain the baby
\nis in a good condition. Ever since prenatal screening was introduced, babies found to show signs
\nof Down syndrome were terminated. A full scan for health complications associated with Down
\nsyndrome is considered a necessity throughout an individual\u2019s life. Over the years, provision of
\nbasic education as well as proper care of individuals suffering from the down syndrome have
\nproven to improve their lives significantly in terms of quality. The majority of children with
\nDown syndrome disorder can be taught in a normal school environment albeit a few minor
\nadjustments. In some cases, children with the same disorder often require special attention in
\norder to learn (Weijerman & de Winter, 2010).
\nA lot of children who attend normal schooling despite having Down syndrome go as far
\nas a graduating. A few go as far as attending high school despite their condition. It goes to show
\nthat proper care and guidance for individuals with Down syndrome goes a long way (Chapman,
\n1997). Research goes to show that 20% of individual adults suffering from Down syndrome
\nattain jobs to a specific capacity. Further, it goes to prove that disability is not inability. We live
\nin a world where advanced technologies are cropping up every so often. Which such an
\nenvironment coupled up with proper health care and maintenance, the life expectancy of
\nindividuals with Down syndrome lies between 50 and 60 years. Down syndrome is considered to
\nbe the most common condition among humans. Research conducted suggests that in every 1000
\nbabies born yearly, one among them must have the Down syndrome disorder. In 1866, the
\ncondition was fully described by a British doctor by the name John Langdon Down. The name of
\nthe condition was later derived from the British doctor.
\nSigns and symptoms
\nSymptoms of Down syndrome vary a lot. You may find that what a particular individual
\nwith the condition is experiencing varies from another individual with the same condition.
\nDespite their age similarities, it goes to show that people with Down syndrome may experience
\ndifferent problems at different intervals in their lives.
\nDOWN SYNDROME 3
\nPhysical symptoms
\nSome common physical symptoms of the disorder include (Bull, 2011):
\n\u00b7 Decreased muscle tone
\n\u00b7 Rather small ears, nose, and mouth
\n\u00b7 Wide but short hands
\n\u00b7 Formation of brush field spots
\nResearch has proven that normal children grow and develop faster than children with
\nDown syndrome. This is because children with the disorder tend to have a weak muscle tone.
\nAlso, this might result in it taking much longer for that child to learn how to sit, stand and even
\nwalk. Despite having such shortcomings, these children have the potential to take part in physical
\nactivities like normal children (Ulrich, Burghardt, Lloyd, Tiernan, & Hornyak, 2011). Children
\nwith Down syndrome may take longer to accomplish the development milestones compared to
\nother children. But in spite their disadvantage, they are capable of meeting many if not all these
\nmilestones (Down syndrome, 2010).
\nIntellectual and development symptoms
\nProblems related to slow understanding, thinking as well as learning are common in
\nindividuals with Down syndrome. Although most children with Down syndrome develop their
\ncommunication skills, it is usually slower. This is compared to other children. Children with
\nDown syndrome condition should be given research essay writers both speech and language lessons earlier on. This
\nwould be helpful in advancing their communication skills (Martin, Klusek, Estigarribia, &
\nRoberts, 2009).
\nDown syndrome has been categorized into three different parts. These are;
\n\u00b7 Trisomy 21 (nondisjunction)
\n\u00b7 Mosaicism
\n\u00b7 Translocation
\nTrisomy 21 (nondisjunction)
\nThe causative agent of Down syndrome is usually an error that occurs during the cells
\ndivision process. This error is termed as \u201cnon-disjunction.\u201d This is whereby instead of the
\nusually two chromosomes, an embryo acquires a third copy of chromosome 21.through the
\nfailure of the egg or sperm to separate, and it results in this condition. This happens usually
\nbefore or close to conception (Hassol & Jacobs, 1984). The extra set of the chromosome is
\nDOWN SYNDROME 4
\nreplicated I each and every cell in the development of the embryo takes place. It is proven that
\n95% of cases fall under this particular type of Down syndrome.
\nMosaicism
\nThis type of Down syndrome develops when the extra set of chromosome 21 is only
\nreplicated in one of the cells after fertilization. During this occurrence, two types of cells tend to
\nmix up. Some of those cells contain 46 of the usual chromosome while others are having 47. The
\nextra chromosome 21 is contained in the cell with 47 chromosomes (Fishler & Koch, 1991). This
\ntype of Down syndrome accounts for 1% of every case.
\nTranslocation
\nAccording to research, 4% of all cases are accounted for by this type of Down syndrome.
\nIn the is particular type, during the process of cell division, one chromosome breaks then
\nattaches itself to another different chromosome (Jyothy, Mallikarjuna Rao, Kumar, Babu Rao,
\nDevi, & Reddy, 2002). Despite maintaining the original number of chromosomes, Down
\nsyndrome is caused by the chromosome 21 that attached itself
\nIn conclusion
\nOver the years; doctors have been tirelessly working to establish a way in which these
\ngenetic disorders can be reversed. Doctors are still looking to find a permanent solution that can
\nprevent future generations from these genetic disorders. Most diseases are a phenotypic
\nrepresentation of protein quality and quantity disorders, either at DNA, transcriptional,
\ntranslational or post-translational levels.
\nRunning head: DOWN SYNDROME 5
\nReferences
\nBull, M. J. (2011). health supervision for children with down syndrome. pediatrics, 128 , 393-
\n406.
\nChapman, R. S. (1997). Language development in children and adollescents with down
\nsyndrome. Mental retardation and development disabilities research reviews,3(4), , 307-
\n312.
\nDown syndrome. (2010). In A.D.A.M. Medical encyclopedia. Retrieved from
\nhttp:\/\/www.ncbi.nim.nih.gov\/pubmedhealth
\nFishler, K., & Koch, R. (1991). Mental development in Down syndrome mosaicism. American
\njournal on mental retardation .
\nHassol, T. J., & Jacobs, P. A. (1984). Trisomy in man. Annual review of genetics , 69-97.
\nJyothy, A., Mallikarjuna Rao, G. N., Kumar, K., Babu Rao, V., Devi, U., & Reddy, P. P. (2002).
\nTranslocation down syndrome. Indian journal of medical sciences, 56(5) , 225.
\nMartin, G. E., Klusek, J., Estigarribia, B., & Roberts, J. E. (2009). Language characteristics of
\nindividuals with down syndrome. topic (sample nursing essay examples by the best nursing assignment writing service)s in language disorders, 29 (2), , 112-132.
\nPatterson, D. (2009). Molecular genetic analysis of down syndrome. Human genetics , 195-214.
\nUlrich, D. A., Burghardt, A. R., Lloyd, M., Tiernan, C., & Hornyak, J. R. (2011). Physical
\nactivities benefits of learning to ride a two-wheel bicycle for children with down
\nsyndrome: A randomized trial. Pyhsical therapy , 1463-1477.
\nWeijerman, M., & de Winter, J. (2010). clinical practice. the care of children with down
\nsyndrome. European journal of pediatrics 169 (12): , 1445-52.<\/p>\n","protected":false},"excerpt":{"rendered":"
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