Introduction
Down syndrome also known as Trisomy 21, is a genetic disorder resulting from extra
chromosomes affecting the 21 chromosome. The complication can affect the rest or part of the
chromosome involved (Weijerman & de Winter, 2010) . The most prevalent indicator of the
disorder is delayed physical growth as well as low intellectual level resulting from delayed
mental development. As a result, the average intellectual quiescent for persons with Down
syndrome is 50, which is way below the standard equivalent. The chromosomes are an important
aspect in the growth and development of the baby from conception to birth since they facilitate
the formation of the baby. For a normal baby, there are 46 chromosomes whereas for those born
with Down syndrome there is an extra chromosome 21. The extra chromosome is responsible for
the delayed physical and mental development of the child (CDC, 2020) . Besides mild mental and
physical development, the following are other physical indicators of Down syndrome; loose
joints, short neck, small ears, flattened face, small feet and hands, shortness in height among
others, generally, persons with Down syndrome tend to look alike but have different abilities and
capabilities.
Despite the disorder being one of the common disabilities among newborns all over the
world, there is a higher prevalence among women above 45 years (Morris, Mutton, & Alberman,
2002) . Despite the disease having long-term effects on the affected persons, the individuals can
live longer due to the available management strategies. Also, through screening programs, the
disorder can be detected during prenatal stage of the pregnancy, genetic tests or through direct
observation after birth. Additionally, there are three different categories of Down syndrome the
medical practitioners are supposed to diagnose in order to provide the appropriate prescription.
They are mosaic, translocation and trisomy 21 (CDC, 2020) .
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Trisomy 21: this is the most common type of Down syndrome affecting significant
number of victims. Persons with Trisomy 21, have an extra chromosome 21 (3) form the
normal number (2).
Translocation Down syndrome: this category occurs when the 21 st chromosome
attaches itself onto another chromosome during pregnancy. The attachment
(translocation) may affected a part or the entire 21 st chromosome.
Mosaic Down syndrome: this type is the least common characterized by a combination
of extra cells in some but not all the chromosome 21. Since most of the chromosomes for
persons with this condition have the required number of chromosomes, they tend to have
less features compared to the other forms of the condition.
Despite the disease being common among newborns, it is important to note that the
condition is predominant among older mothers. Advanced age is one of the greatest risk factors
especially for women above the age of 35 years (Morris, Mutton, & Alberman, 2002) . The risk is
due to improper cell division during pregnancy resulting from older eggs produced by older
women. However, Down syndrome is also prevalent among younger women due to their ability
to conceive more children, allowing for recessive genes from carrier parents to manifest. Besides
old age, another risk factor for the condition is genetic translocation among the parents. Genetic
translocation among the parents implies that the parents (both male and female) may be carriers
for the condition and therefore, have the ability to pass it down to their offspring. The risk is
even greater for parents who have an existing child with the condition (Clinic, 2020) .
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As already highlighted, down syndrome patients have varied physical and mental
development which hinder proper growth and development. However, as the victims get older,
they tend to develop certain health complications resulting to short lifespans, namely; immune
disorder, heart conditions, spinal conditions, leukemia, obesity, dementia as well as gastro-
internal complications. Due to the varied health complications associated with the disorder, life
expectancy for persons with Down syndrome was below the age of 10 years. However, the
expectancy has improved over the years due to the improved medical advances concerning the
condition. Therefore, it is important for care givers for persons with Down syndrome to have
close interactions with medical practitioners specialized in this area to ensure they live a happy
and prosperous life (Team, 2019) .
Due to technological advancement in medicine, early detection of the condition is
possible through screening and diagnostic tests carried on women of all ages. The screening tests
indicate the likelihood of the baby having Down syndrome but with no exact result whereas the
diagnostic tests clearly and accurately indicate whether or not the child has the condition.
However, it is important for the health care provider to discuss the types of tests available,
merits, demerits, risks and explanation of the results to the pregnant mother before undertaking
the tests (Clinic, 2020) . Screening tests are usually carried out during pregnancies as part of the
prenatal care for pregnant mothers. Although the tests are not accurate, they provide pregnant
mothers with the opportunity to choose their preferred diagnostic tests. The tests are divided into
two categories, namely; first trimester combined test and the integrated screening tests. The first
trimester combined test is conducted under two steps which are; blood test and nuchal
translucency test. For blood test, the focus is on the plasma protein-A levels and human
chorionic gonadotropin hormone levels. An imbalance in the levels indicates complications with
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the pregnancy (Clinic, 2020) . Nuchal translucency test, is conducted with the help of an
ultrasound with the focus being around the child’s neck. High levels of fluids around the area
indicates an abnormality. Integrated screening test, on the other hand, is conducted during the
first and the second trimesters of the pregnancy (Crosta, 2017) . A combination of the results
indicates the risk of the child contracting the disorder. The first trimester tests combines the
blood test and the nuchal translucency test, whereas the second trimester measures the blood
level of four different substances, namely; inhibin A, estriol, alpha fetoptotein and HCG (Clinic,
2020) .
Presented as the most accurate test, diagnostic tests can either be carried out during the
pregnancy or after birth. The tests are usually presented as follow-up tests to the screening tests.
There are two different diagnostic tests including; amniocentesis and chorionic villus sampling
(CVS) (Clinic, 2020) . CVS is carried out during the first trimester where fetal chromosomes are
analyzed using placenta fluids extracted from the mother. Amniocentesis, on the other hand, is
carried out during the second trimester where the fetal chromosomes are analyzed for any
abnormalities. Diagnostic tests carried out after birth greatly depend on observation of the child’s
physical appearance. However, accuracy of the test is ensure through chromosomal karyotype
test since some of the physical appearance may be found on children without the condition
(Clinic, 2020) .
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There is no recognized treatment for Down syndrome but only management measures
aimed at improving the functionality of the affected person. Early intervention is an important
aspect in managing the condition through specific activities geared towards improving their
intellectual and physical wellbeing while focusing on their individual capabilities. Therapy is one
of the measure implemented with specific therapies including speech, occupational and physical
therapy (CDC, 2020) . Also, care givers are supposed to provide the victims extra care and work
closely with the medical practitioners to ensure management of underlying conditions.
Conclusion
Down syndrome is a chromosomal condition affecting the arrangement of chromosomes
in an unborn child. The complication affects the growth and development of the child leading to
mild and severe delayed physical and mental development. The prevalence of the condition is
among older women due to improper cell division as well as carrier parents. There are three
known categories of Down syndrome; mosaic, translocation and Trisomy 21. Screening and
diagnostic tests are carried out to indicate the prevalence of the condition with diagnostic being
more accurate. However, there is no specific treatment of the condition other than extra care of
the victims to ensure they realize their full potential.
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Reference
CDC. (2020). Facts about Down Syndrome. CDC. Retrieved from:
https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
Clinic, M. (2020). Down syndrome. Mayo Clinic. Retrieved from:
https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-
20355977
Morris, J., Mutton, D., & Alberman, E. (2002). Revised estimates of the maternal age specific
live birth prevalence of Down's syndrome. Journal of Medical Screening, 2–6.
Team, H. E. (2019). Down Syndrome. Healthline. Retrieved from:
https://www.healthline.com/health/down-syndrome#statistics-and-considerations
Weijerman, M., & de Winter, J. (2010). Clinical practice. The care of children with Down
syndrome. European Journal of Pediatrics, 1445–52.
Crosta, P. (2017). What to know about Down syndrome. MedicalNewsToday. Retrieved from:
https://www.medicalnewstoday.com/articles/145554