Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small genetic material packed inside DNA. They determine how a baby’s body forms during pregnancy and how the baby’s body functions as it grows in the womb and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

The purpose of this article is to identify the causing factors and management strategies of a very common genetic disorder called Downs Syndrome. Downs syndrome (DS) is a disorder in which babies born with redundant copies of the 21^st chromosome. Its prevalence varies from 1 on 400 to 1 on 1500 people in diverse countries. This neurodevelopment syndrome affects both mental and physical health. Undeniably, it can be correlated to incompatible comorbidities. People with DS often have obesity and results to be not as active as their aristocrats (Bull, 2020).

According to the national Down syndrome society (NDSS), 1 in 700 babies are born with DS in the US. It is the most characteristic syndrome in the US. People with DS can expect to live more than 60 years.  There are three types of DS; Trisomy 21, Mosaicism, and Translocation. The most communal form of DS is trisomy 21 accompanying a superfluous copy of 21^st chromosomes in all cells. Mosaicism ensues when babies born with extra chromosomes in some cells but not in all. Translocation takes place when babies born with an extra part of the 21^st chromosome. People with DS are at elevated risk than that of respiratory and gastrointestinal circumstances. People with this disorder die at a younger age than the universal population and the average persistence of babies with DS was about 10 years of age (Roizen & Patterson, 2003).

Babies with DS have convinced appearance signs at birth, though not all people have some characteristics of DS, including a smooth face, small head, and ears, short neck, protuberant tongue, and eyes that pitch upward. Another symptom of Down syndrome is poor muscle tone. Medical impediment often escorts DS including hereditary heart defects, hearing loss, poor visualization, leukemia, continuing constipation, and obesity. Further, people with DS are extra liable to infection. They may battle with a respiratory infection, skin infection, and urinary tract infection. Most babies with DS have slight to reasonable intellectual weakening.

 As adults with DS, their psychological incapacities are similar to those of 8 to 9 years. Moreover, people with DS have deprived immune function. People about 20 to 50% with DS have thyroid gland complications. Some people have a higher hazard of DS in their babies. Risk features comprise, advancing maternal age, having had one child with DS, and being carriers of the hereditary translocation for DS. Older women with age about 35 have a great risk of DS because older eggs have a higher risk of unsuitable separation of chromosomes. A Father over the age of 40 has twice the risk of children with DS. 

There are different methods used to diagnose parental DS. Ultrasound between 14 to 24 weeks of development can be used as an instrument for the diagnosis of DS. CVS (Chorionic villus sampling) had extensively used for the diagnosis of DS but there is an insignificant risk of miscarriages between 0.5 to 1%. A sample of fluid adjoining the fetus called amniotic fluid is taken via needle and injected into the mother’s uterus.

The chromosome of the fetus is then investigated by this sample. This test is executed by a doctor in the second trimester, after 15 weeks of pregnancy. Many other methods are also developed and are used for the recognition of trisomy 21 both throughout embryonic life and after birth. The most common strategy employed is FISH of interphase nuclei. It can be accomplished by either using Hsa21 characteristic probes or the entire Hsa21. Moreover, another recently employed method is QF-PCR. In the technique, the presence of 3 different alleles is found out with the help of DNA polymorphic markers. The applicability of this method is reliant upon revealing remarkable markers and the DNA. Around 86.67% of Down syndrome cases can be identified with the help of the STR marker strategy (Alldred et al., 2017).

PSQ (paralogue sequence quantification) is a comparatively recent method practice the paralogue arrangement. This in turn resulted in the detection of abnormalities in chromosomes. The initial diagnosis of DS is often based on the child’s appearance after birth.

Down syndrome is diagnosed by screening. These do not give accurate answers but let you know the child has a cumulative risk of DS and does not maltreatment the mother and baby. The pregnancies of DS are frequently abandoned. Down syndrome is detected by a diagnostic test, it gives an accurate answer but there is a high risk of miscarriage. This test is not offered to all women. It offers definite analysis with 100% accuracy. About 92% of pregnancies with DS are aborted in Europe (Salemi et al., 2020).

There is no cure for DS but health problems associated with DS can be treated effectively. Treatment for DS diverges, it starts in childhood. The care team helps family members with DS. The care team includes; physical therapists, primary care providers, medical specialists, speech therapists, behavioral therapists, and occupational therapists.

 People with DS often have medical conditions that can be managed by medication or other care. A child with DS will take an overhaul from a team of health specialists. DS with an infant may desire surgery after birth to correct heart imperfection. A person with DS having digestive problems will necessitate long life distinct diets. Some people take amino acid supplements or drugs for the treatment of Down syndrome that affects their brain activities. Proper care and education can improve the superiority of life. Vaccination is recommended in childhood with Down syndrome. Although there is no cure for Down syndrome however the incidence of this disorder can somehow be reduced by focusing on the causing factors of this genetic ailment. Moreover, with proper care and training, the life quality of such individuals can also be improved.

 

References

Alldred, S. K., Takwoingi, Y., Guo, B., Pennant, M., Deeks, J. J., Neilson, J. P., & Alfirevic, Z. (2017). First-trimester ultrasound tests alone or in combination with first-trimester serum tests for Down's syndrome screening. Cochrane Database of Systematic Reviews(3). doi:10.1002/14651858.CD012600

Bull, M. J. (2020). Down Syndrome. New England Journal of Medicine, 382(24), 2344-2352. doi:10.1056/NEJMra1706537

Dunn, K., Rydzewska, E., Fleming, M., & Cooper, S.-A. (2020). Prevalence of mental health conditions, sensory impairments and physical disability in people with co-occurring intellectual disabilities and autism compared with other people: a cross-sectional total population study in Scotland. BMJ Open, 10(4), e035280. doi:10.1136/BMJ open-2019-035280

Roizen, N. J., & Patterson, D. (2003). Down's syndrome. The Lancet, 361(9365), 1281-1289. doi:https://doi.org/10.1016/S0140-6736(03)12987-X

Salemi, M., Ridolfo, F., Salluzzo, M. G., Cannarrella, R., Giambirtone, M., Caniglia, S., . . . Romano, C. (2020). Human gene expression in fibroblast of Down syndrome subjects. International journal of medical sciences, 17(3), 320-324. doi:10.7150/items.39145

 

---

Find articles related to: Medicine Telehealth Health Down Syndrome Management Strategies for DS


More articles about General Health Tips & News

Back to the Health Tips Index