Free Essay Describing Down Syndrome Causes and History

Down syndrome is a genetic disorder that affects fetal development. The complication is not an illness; instead, it is a genetic disorder caused by an additional copy of chromosome 21 in an individual's genome. Therefore, an individual acquires 47 chromosomes in their body cells instead of the normal 46 (Diamandopoulos & Green, 2018). The extra chromosome has a wide array of effects on foetal cognitive and physical development. The complication causes delays in a child's mental and physical development.

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In 1866, John Langdon Down discovered the disorder, which is also known as trisomy 21. He acknowledged the disorder as a mental disability. In the twentieth century, the disease became dominant leading to an increased number of children born with cognitive difficulties. In the past, before science intervention, infants suffering from the disorder were killed or abandoned for death. In Nazi Germany, the regime introduced a program for involuntary euthanasia, where the government killed most people who have the Down syndrome. In the United States, most victims were institutionalized in mental facilities and segregated. However, in the mid-twentieth century, the cause of the disease was identified with the help of Karyotype methods.

Notably, there are three types of Down syndrome. The first one is known as nondisjunction or trisomy 21, which accounts for about 95% of all Down syndrome cases. Trisomy 21 occurs during cell meiosis when one gamete cell-sperm or ovum-fails to divide leading to an embryo with an extra copy of chromosome 21 (Diamandopoulos & Green, 2018). As the body cells undergo meiosis, the additional chromosome is replicated in every body cell. Secondly, translocation syndrome is responsible for approximately 3% of Down syndrome complication cases. In this case, individuals are born with the usual 46 chromosomes (Diamandopoulos & Green, 2018). However, they have 47 chromosomes in their genetic material due to the attachment of chromosome 14 on another chromosome in the same cell.

Thirdly, mosaicism accounts for two percent of Down syndrome cases. Infants born with the complication have an uneven number of chromosomes in their body cells (Diamandopoulos & Green, 2018). For instance, some have 47, while other has 46 chromosomes. Babies with the complexity have less Down syndrome characteristics compared to nondisjunction victims. Additionally, the traits vary about the number of cells affected.

How is it inherited? Does it affect a particular sex or age group?

On the other hand, heredity is a minor risk since it contributes to 1% of the cases. Nevertheless, Translocation Down syndrome is the only type of the disorder that is passed down a generation. Noticeably, heredity is responsible for about half of all cases of Robertson translocation syndrome (Diamandopoulos & Green, 2018). People inherit the disorder from either their mothers or fathers who are carriers of the translocated chromosome 21. In most cases, the carrier parents are unaffected since their substituted part of the chromosomal material is balanced. Their cells do not have an extra 21 chromosome.

Furthermore, such parents can give birth to a balanced carrier child or one that is suffering from DS. According to research, women carriers have about 12% probability of conceiving a baby with DS. On the other hand, males who carry chromosome 21 have a 3% chance (Diamandopoulos & Green, 2018). Therefore, after the birth of a DS baby, the parents are tested for the carrier chromosome to determine the cause of the disorder.

One of the significant risk factors associated with Down syndrome is advanced maternal age, where the mother is aged above 35 years. However, there are cases where younger mothers conceive babies suffering from the condition. According to (Shajpal & Siddiqui, 2017), in the US, for women younger than thirty-five years, one in every 1000 newborn is affected. Contrary, for those above forty years, the number increases to 12 cases in every 1000 births.

Moreover, Shajpal & Siddiqui (2017) claim that cases of the disorder among mothers above 45 years increase to 1 in every 32 births compared to 1 in every 1400 for those in their early twenties. Notably, increased paternal age may also contribute to the complication. Therefore, it is imperative on for pregnant women to undergo regular prenatal screening to examine the babies' development and identify necessary diagnostic procedures (Shajpal & Siddiqui, 2017).

What are the symptoms?

Down syndrome affects individuals differently causing various intellectual and physical deformities at different stages in life. Firstly, children with the disorder have weak muscles compared to children without DS. The situation makes it difficult for the victims to learn how to sit, turn over, walk, and stand during their infancy; therefore, they take longer to develop physically (Shajpal & Siddiqui, 2017). However, despite the delays, victims can learn how to take part in physical activities like other children in the end. Secondly, DS infants have reduced necks, ears, mouths, and small heads. Notably, the most common symptom associated with DS is the flattened nose and facial profile.

Additionally, Diamandopoulos & Green (2018) note that some children are born with eyes slanting upwards, bulging tongues, shorthand and fingers, wide hands, brushfield spots, and short heights. The above symptoms are the most common among DS victims. They start appearing from birth and increase with age. However, some symptoms appear due to other complications; thus the need to undergo testing.

Furthermore, children suffering from DS develop intellectual disabilities with advancement in age. For example, they might have mild or moderate mental impairment and develop difficulties in learning and thinking (Diamandopoulos & Green, 2018). Common cerebral symptoms include poor attention, impulsive behavior, delayed speech, language development, and slow learning. Notably, most children learn how to write and communicate longer than others; therefore, parents are encouraged to connect with the DS communities to enable their children to access expressive language and speech intervention activities. Moreover, DS has various related conditions and disorders such as heart complications, autism disorders, vision problems, gastrointestinal defects, sleep apnea, and other immune disorders.

Is there any cure?

Scientists have not yet found a cure to treat the genetic disorder. However, there is an array of educational and support programs to enable the children to lead meaningful lives and contribute to society. For example, therapists in individual schools help children develop sensory, motor, self-help, and communication skills (NICHD, 2018). Additionally, parents are advised to undergo genetic screening if they perceive any risks associated with the disorder such as family history and advanced maternal age.

What if any are recent findings on the disease or cure/treatment?

According to the National Institute of Child Health and Human Development, various research directed towards improving brain activity among DS victims are underway (NICHD, 2018). NICHD scientists discovered that administration of neuroprotective peptides to unborn mice improved their cognitive development. The treated mice with additional chromosome 21 developed as well as those without extra genetic material. They also learned faster than untreated the mice. However, the peptides have not been tested on human beings; therefore, the cure remains unknown.

References

Diamandopoulos, K., & Green, J. (2018). Down syndrome: An integrative review. Journal of Neonatal Nursing. Pp. 1-7.

NICHD. (21 June, 2018). Down syndrome: Research activities and scientific advances. Retrieved from https://www.nichd.nih.gov/health/topics/down/researchinfo/activities

Shajpal, A., & Siddiqui, F. (2017). Screening for Down syndrome. Obstetrics, Gynecology & Reproductive Medicine, 27(11), 333-337.