Down syndrome remains one of the most commonly diagnosed genetic diseases in modern practice. Current grant sponsorship for scientific advances, updated FDA regulations for the pharmaceutical agents, and increased level of family’s involvement in the child’s care sufficiently increased the likelihood of the successful treatment. This case-report will focus on the role of the aforementioned factors in the current status of Down syndrome, followed by the possible laboratory testing of the disease.
One of the lifelong chronic intellectual disabilities, Down syndrome, develops due to genetic modification. According to Ambreen, Ashok, Srinivasan, Shalu, and Sarita (2015), the phenotype of the disease results from the imbalance of genes on Has 21 (human chromosome 21), in particular, the presence of an extra copy of chromosome 21. Shortly after birth, infants diagnosed with trisomy 21 begin sharing some inherent features, such as craniofacial abnormality, decreased muscle tone, small chin, and a flat nasal bridge.
In the most severe cases of the illness, individuals develop other staggering comorbidities, including atrioventricular septal defects, leukemia, and Attention-Deficit/Hyperactivity disorder (Ambreen et al., 2015). Early diagnosis and suitable treatment allow addressing the aforementioned health complications effectively, improving the patient’s quality of life.
Until now, Down syndrome is believed to be the most prevalent chromosomal condition in the world. Although its ubiquity slightly differs depending on the country, the average prevalence and incidence rates remain relatively the same. As followed by Al-Biltagi (2015), in North America, the birth prevalence of children with Down Syndrome today is approximately 1.18 in 1000 births, compared to 0.9 in 1000, in the late 1990s. The growing tendency is explained by the increased maternal age (35 years) and multiparity.
The average incidence rates, estimated disregarding the influence of race and ethnicity, is 1 in 691 (Al-Biltagi, 2015). Ambreen et al. (2015) emphasized that the range of the trisomy 21 incidence is mostly influenced by maternal age and ranges from 1 in 319 to 1 in 1000 births. The scope of this report does not allow to discuss the role of demographic factors in the prevalence and incidence rates, resulting in the usage of mean numbers.
A variety of methods is used to diagnose Down syndrome; however, the safest laboratory procedure is non-invasive prenatal testing (NIPT). As explained by Chitty et al. (2016), NIPT is developed based on “sequencing of cell-free DNA in maternal plasma” (p.1). With a false positive rate of 0.1%, this laboratory testing provides a possibility of the increased detection of trisomy 21 without invasion and association with iatrogenic miscarriages. Despite the aforementioned advantages of the method, NIPT is still not incorporated in the public healthcare systems because of its high procedural costs, accessible mostly in the private sector (Chitty et al., 2016).
According to Kazemi, Salehi, and Kheirollahi (2016), an alternative method to NIPT is amniocentesis, an invasive prenatal diagnostic procedure, based on testing amniotic fluid for karyotyping starting at 15 weeks. Though reliable, it increases the risk of miscarriage up to 1%. Other screening methods used include serum markers and ultrasonography in the second trimester, which allow identifying increased fetal risk for Down syndrome (Kazemi et al., 2016). The best testing method from all the aforementioned procedures may only be determined based on the individual’s record.
Though currently, there exists no medicine to treat trisomy 21, it is possible to improve the patient’s well-being by following FDA regulations regarding pharmaceutical agents. According to Gardiner (2015), two new FDA’s policies limit the usage of convulsive drugs and approve for rapamycin (MTOR) pathway inhibitors. On the one hand, the federal agency recommends abstaining from the prescription of convulsants, such as PTZ, since children with trisomy 21 have an increased risk for seizures. Although convulsants were used for treating the disease for many years, in 2014, the FDA withdrew the approval.
On the other hand, the institution accepted the utilization of MTOR, claiming that it may potentially treat cognitive deficits in Down syndrome. The reasoning behind their decision is based “on the observation of elevated phosphorylation of MTOR and AKT in the Ts1Cje mouse model of DS” (Gardiner, 2015, p.120). FDA predicts that active elements in the drug may increase mental impairments in patients with trisomy 21, similar to rodents in the experiment (Gardiner, 2015). With no treatment for Down syndrome existing at the moment, FDA aims at approving best medicine for lessening the symptoms of the disease.
Until the 2000s, trisomy 21 remained one of the most underfunded genetic disorder worldwide. Without substantial monetary investments, little scientific advances have been possible in the capitalist healthcare system in North America. However, according to Majumder, Bhaumik, Ghosh, Bhattacharya, and Ghosh (2015), the situation was remedied recently. Designated grants from several governmental institutions contributed to significant scientific advances in the area.
As specified by Majumder et al. (2015), researchers conducted meaningful studies on the association between trisomy 21 and congenital heart disease, Alzheimer’s disease, and mitochondrial dysfunction. Furthermore, recently developed theory of chromosomal missegregation and mitochondrial DNA analysis for patients with Down syndrome helped to minimize cases of apoptosis (Majumder et al., 2015). Future investments in the area allow hoping for further scientific breakthroughs in treating trisomy 21.
From many perspectives, the future well-being of the children diagnosed with Down syndrome depends on their family. Parental involvement in the healthcare decision starts before the baby’s birth, when a mother chooses between the suggested screening methods, accounting for risks associated with the procedure (Chitty et al., 2016). Further course of the treatment, including pharmacological agents, therapies, and surgeries, is also approved by the parents. Finally, the child’s mental development depends on the immediate family’s emotional and physical involvement in the upbringing.
Ultimately, the process of treating Down syndrome poses challenges to the healthcare system. Nevertheless, current FDA regulations in the area and monetary investments in scientific research increased the accuracy of the suggested treatment. Newly developed drugs and methods for early diagnosis of the disease, as well as a general tendency for higher parental involvement in the healthcare decisions, help to improve the patient’s quality of life.
Al-Biltagi, M. (2015). Down syndrome from epidemiologic point of view. Ecronicon Paediatrics, 2(1), 82-91. Web.
Ambreen, A., Ashok, K., Srinivasan, M., Shalu, J., & Sarita, A. (2015). Down syndrome: An insight of the disease. Journal of Biomedical Science, 22(41), 1-9. Web.
Chitty, L. S., Wright, D., Hill, M., Verhoef, T., I., Daley, R., Lewis, C., … Morris, S. (2016). Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: Prospective cohort study in eight diverse maternity units. BMJ, 354(i3424), 1-11. Web.