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In spite of the fact that scientists have significantly improved their knowledge of various genetic disorders, Down syndrome (trisomy 21) still needs to be studied. Nowadays, it is widely known that this genetic condition develops due to an extra copy of chromosome 21. People diagnosed with this health issue are expected to face numerous physical and mental illnesses during their lifetime. On the one hand, the implementation of national interventions helps patients with Down syndrome overcome potential social and intellectual barriers in order to have a fulfilling and long life. On the other hand, people with this health issue have learning disabilities which still make it difficult to study at school, find a job, and achieve professional goals. Thus, genetic changes in the development of human beings considerably impact the quality of life, thereby, creating a variety of challenges for people with trisomy 21 and their families.
Brief Information
As it was mentioned above, Down syndrome has been studied in different parts of the world for several decades. In turn, the analysis of statistical data in combination with research studies demonstrates that trisomy 21 affects 1 person among 700 individuals (Karmiloff-Smith et al., 2016). Even though this statistical rate seems to be low, Down syndrome is regarded as the most common genetic condition in the United States. At the same time, clinicians and scientists have managed to increase the lifespan of people diagnosed with this condition. In the middle of the past century, the average life expectancy of people with this health issue was nearly 10 years (Kazemi et al., 2016). Nowadays, individuals with trisomy 21 are predicted to live at least 50 years. In terms of classification of Down syndrome cases, healthcare providers highlight 3 main types, such as trisomy 21, translocation syndrome, and mosaic syndrome. The differences between these types cannot be identified on the basis of physical features.
Causes and Risk Factors
It is still difficult to determine the exact number of factors affecting the development of this genetic condition. However, there is evidence-based information demonstrating that women after 35 and men after 40 are more likely to give birth to a c child with Down syndrome than younger parents (Karmiloff-Smith et al., 2016). Moreover, people with a family history of this condition have a high likelihood of facing the complications of this genetic condition in the life of their children. Simultaneously, it is essential to note that there are no determinants which can guarantee the development of trisomy 21. In order to give birth to a healthy child, parents are recommended to make an appointment with a genetic counselor. This professional is able to analyze the medical history of future parents and predict the probability of facing the complications of Down syndrome.
Diagnosis
This genetic issue can be diagnosed during pregnancy, as modern technologies offer the opportunity to use versatile diagnostic tools. In the first trimester of pregnancy, healthcare providers recommend paying attention to ultrasound evaluation and blood tests. These diagnostic procedures can help the doctor identify the probability of giving birth to a child with Down syndrome in the future. In the second trimester, doctors use a quadruple marker screen to detect birth defects. Finally, when some signs of genetic conditions are identified, the doctor can use other assessment tools, such as amniocentesis, chorionic villus sampling, and cordocentesis (Kazemi et al., 2016). However, some assessment sessions pose a threat to pregnancy, which is why numerous women prefer to ignore these tests. As a result, numerous women are not aware of the fact that they are pregnant with a child affected by Down syndrome until this child is born.
Symptoms
The symptoms of this genetic condition can be divided into groups of physical ones and intellectual ones. As to the physical symptoms, they can differ among people, although the majority of patients diagnosed with trisomy 21 have the same signs of this illness. Most frequently, they include flat facial features, short neck, almond-shaped eyes, short height, and small ears. Furthermore, some people with this genetic condition struggle with additional physiological complications, such as hearing loss, poor vision, obesity, and sleep apnea (Karmiloff-Smith et al., 2016). The list of health complications can be complemented with a variety of other issues, as it depends on individual features. In the context of intellectual development, people affected by this issue have the moderate level of IQ (Kazemi et al., 2016). In addition, impulsive behavior and poor judgment are integral parts of the life of individuals whose health and life are affected by Down syndrome.
Complications
On the one hand, scientists have managed to find methods to increase the lifespan of people diagnosed with Down syndrome. On the other hand, the life of these individuals is usually associated with numerous health complications. For instance, people with this genetic condition are more likely to suffer from heart defects, immune disorder, leukemia, and dementia during their lifespan than people without genetic conditions (Karmiloff-Smith et al., 2016). Therefore, it is important to make regular appointments with a doctor who would be able to provide the highest quality services in order to minimize the negative impact of complications developed due to Down syndrome.
Treatment
Taking into consideration that Down syndrome significantly affects the physiological and intellectual abilities of individuals, the treatment programs are usually based on a combination of several approaches. For example, these therapies offer people with this genetic condition the opportunity to improve motor skills, sensory skills, as well as cognitive abilities (Kazemi et al., 2016). In fact, each state in the United States is required to implement interventions related to the education of children with trisomy 21. As a result, in spite of the place where children with Down syndrome are born, they can attend specific public and private schools which educate students on the basis of speech, occupational, and physical therapies. However, if the person suffers from the mild or moderate form of this condition, they can be placed in the regular school.
Conclusion
As one of the most common genetic conditions in the world, Down syndrome affects the lives of several thousand individuals annually. Modern healthcare technologies provide the opportunity to detect the symptoms of trisomy 21 in the earlies stages of pregnancy. However, taking into account that numerous women refuse using certain diagnostic tools due to high risks, many children can be diagnosed with Down syndrome only after birth. As a result, children usually suffer from physiological issues, as well as intellectual disabilities. In order to improve the quality of their lives, authorities take appropriate measures to implement specific interventions. For instance, certain educational, behavioral, and physiological therapies are offered in each state of the country. The combination of these therapies is expected to help individuals diagnosed with this genetic condition live a happy and productive life.
References
Karmiloff-Smith, A., Al-Janabi, T., D’Souza, H., Groet, J., Massand, E., Mok, K., Startin, C., Fisher, E., Hardy, J., Nizetic, D., Tybulewicz, V., & Strydom, A. (2016). The importance of understanding individual differences in Down syndrome. F1000Research, 5, F1000 Faculty Rev-389. Web.
Kazemi, M., Salehi, M., & Kheirollahi, M. (2016). Down syndrome: Current status, challenges, and future perspectives. International Journal of Molecular and Cellular Medicine, 5(3), 125–133.
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