Down syndrome is a genetic disorder that develops as a result of abnormality during cell division, prompted by replication of an extra chromosome 21 copy. The extra copy of the 21 chromosome is responsible for Down syndrome (Epstein, 1989). Cell division takes place during the formation of the fetus, and the nature of cell division in the initial stages will affect the growth of the baby once it is born. A healthy baby is born with a genetic composition consisting of 46 chromosomes. In contrast, those with Down syndrome are born with an extra chromosome, a condition otherwise known as trisomy, hence the name Trisomy 21.
Description and Symptoms of Down Syndrome
The effects of Down syndrome on the growth of an individual vary in adversity and cause lifelong delays in development and intellectual disability. Children with Trisomy 21 experience difficulties in learning and even speaking (Roizen & Petterson, 2003). It should, however, be noted that the effects of Down syndrome can be managed if the condition is spotted and addressed early enough. The most common cause of mental retardation and defects during birth is Down syndrome.
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The most common physical features associated with Down syndrome include a short neck, characteristic short heights, and underdeveloped muscle and loose joints, short pinky fingers, spots on the iris of the eye, shorter length of legs, and hands. Other symptoms may include small or deformed ears, flat face and a tongue sticking out of the mouth. The symptoms of Down syndrome on an individual show a discrepancy in severity from severe, moderate to mild (Sherman et al., 2007). Children with mild effects of Down syndrome may lead a healthy life. Those with severe effects demonstrate severe problems, including heart defects. Most people with Down syndrome have medical issues. One of the medical difficulties observed in children with Down syndrome is heart problems. Heart defects can be fatal if the child does not undergo surgery. Gastrointestinal issues are, at times, experienced by children born with Down syndrome. Other medical conditions include a weak immune system, obesity, spinal problems, early risk of dementia, and seizures.
Diagnosis of Down Syndrome
Diagnosis of Down syndrome in children born with a genetic disorder is made before or after birth through a positive screening test. Screening is less accurate and is therefore applied in combination with percutaneous umbilical blood sampling (PUBS), Amniocentesis, and Chronic Villus sampling (Delvin & Morrison, 2004). All of these diagnostic tests look for any abnormalities in the chromosomes of the individual that could suggest Down syndrome. Chronic villus sampling is not recommended before the 10 th week of gestation. Similarly, Amniocentesis is not recommended before the 15 th week of pregnancy since it increases the risk of miscarriage. After-birth diagnosis is made by taking the individuals’ DNA for sampling.
Molecular Treatment Basis of Down Syndrome
For many years, there has been no treatment of Down syndrome. Children suffering from these conditions are, in turn, subjected to subsidiary medical care to enhance their quality of life since the disorder is lifelong. Plastic surgeries can be done to improve the facial appearance of individuals with Down syndrome. Heart problems can also be addressed with the help of surgery. Physical therapy and occupational services help children born with Down syndrome to learn how to speak and walk. Early intervention is, however, recommended since it increases the chances of children with Trisomy 21 leading healthy lives and even realizing talents.
Recent research presents a streak of hope for a cure for Down syndrome. A study on the possibility of treating Down syndrome using molecular techniques is being tried. The treatment used the DYRKA1A gene responsible for the development of the brain. Inducing the DYRKA1A gene into chromosome 21 of an individual with Down syndrome prevents the third copy from being functional. Hindering the functionality of the third copy ensures a normal level of gene expression hence restore the abnormal genetic alteration responsible for Trisomy disorder.
Prevalence
Approximately 6000 children are born with Down syndrome every year. This translates that 1 in each 1000 babies is born with Down syndrome. Maternal age is the main factor affecting the chances of Down syndrome during the birth of children (Gaulden, 1992). 40% of the cases of Down syndrome occur to mothers who bare children at the age of thirty-five and above. Down syndrome is responsible for 8% of congenital disorders (Presson et al., 2013). The life expectation for individuals living with Trisomy 21 falls between 50-60 years. Only 10 percent of people living with Down syndrome survive to 60 years.
Conclusion
Down syndrome is a genetic disorder that develops when a fetus develops an extra copy of chromosome during cell division. Down syndrome affects the medical and developmental developments of the baby. Distinguishing signs and symptoms of this condition include intellectual difficulties, developmental problems, and various physical features. The condition is diagnosed through screening combined with percutaneous umbilical blood sampling (PUBS), Amniocentesis, and Chronic Villus sampling. Treatment for the condition has not yet been established; however, early detection of the problem will help improve the quality of life for the victims. Psychological and physical therapy has helped children with Down syndrome learn how to read and write with few cases helping these kids natural talents. 1 out of 1000 babies is born with Down syndrome every year, with the syndrome being responsible for 8 percent of congenital disorders.
References
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Roizen, N. J., & Patterson, D. (2003). Down's syndrome. The Lancet , 361 (9365), 1281-1289.
Sherman, S. L., Allen, E. G., Bean, L. H., & Freeman, S. B. (2007). Epidemiology of Down
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