The Risk for Down Syndrome Development

Abstract

Down syndrome is a genetic disorder that has challenged the healthcare sphere for more than a century. Being one of the most widespread inherited conditions, its prevalence may depend on environmental factors associated with a geographic area or parents being carriers of the genetic translocation. At this time, the treatment of the condition includes the collaboration between healthcare professionals of different specialization to provide a comprehensive framework for disease management. While no prevention method could eliminate the risk for Down syndrome development, understanding the reasons for its emergence as well as ways for improving the quality of life is an essential aspect of genetic studies.

Introduction

Down syndrome (DS) represents a congenital disability that has both significant social and medical costs. It is the most widespread genetic disease globally and is the result of common intellectual disabilities occurring in around 1 in 400-1500 live births. While the syndrome has been seen and described centuries prior, the defect got its name due to John Langdon Down, who developed its clinical symptomology back in 1866 (Kazemi, Salehi, & Kheirollahi, 2016).

DS was found to be caused by the trisomy of the entire chromosome 21 or its parts. Therefore, scientists worked on identifying candidate genes that would participate in the formation of specific features of the DS. The current advancement thus allows developing specific therapy for persons with trisomy 21. Understanding the ways in which DS can be identified and addressed is an important aspect of genetic treatment.

Molecular Basis of the Disease

Down syndrome is a genetic condition that causes further intellectual disabilities among children worldwide. In addition to intellectual challenges, persons diagnosed with DS encounter various health problems, including heart defects, hematopoietic disorders, as well as the early development of Alzheimer’s disease. Due to the trisomy occurring in the whole or a part of chromosome 21, the syndrome develops, with the potential for the increase in expression due to the trisomic gene dosage (Delabar et al., 2016). Chromosome 21 is the smallest autosome in the human body that depicts between 1% and 1.5% of the genome (Kazemi et al., 2016).

There are more than 400 estimated to be included on the chromosome. Data collected with the help of transgenic mice pointed to the fact that only specific chromosome 21 genes could be involved in DS phenotypes, with some genes being more sensitive to the imbalances in gene dosage than the others. DS is usually the result of a mistake in the division of cells that is called non-disjunction, which leads to an embryo having three copies of chromosome 21 (Kazemi et al., 2016). Such a type of Down Syndrome is called trisomy 21 and is considered to be the key cause of the genetic disorder, accounting for approximately 95% of all cases. Overall, DS is a genetic condition that presents significant complications for the healthcare industry, especially since there is no way to prevent it from occurring.

Symptoms and Prevalence

DS goes along with such complications as mental retardation, heart defects, the weak tone of muscles, gastrointestinal abnormalities, visual impairments, dysmorphic features of the head and neck, particular facial and body features, as well as other medical conditions. It is imperative to note that the incidence of children being born with Down increases with the mother’s older age. Although, because younger women have higher fertility rates, the likelihood of having a child with the condition increases as mothers get older. According to Kazemi et al. (2016), more than 80% of children with DS are born to women aged 35 and younger.

The prevalence of DS may differ from one region to another, depending on the social and environmental factors. The estimated incidence of the condition is between 1 and 10 per 1000 live births globally (Al-Biltagi, 2015). Potential risk factors for the higher rates of DS in children can depend on the lack of diagnostic services or other external characteristics. For example, the rate of DS is 0.9-1.18 per 1000 live births, while it is 1.8 per 1000 live births in Saudi Arabia (Al-Biltagi, 2015). In addition, it is also notable that the rate of DS in children is higher in countries that do not offer permission for pregnancy termination. Moreover, the prevalence of the condition in the African population cannot be estimated correctly because of the inaccuracies of studies.

Treatment and Management

At this time, no prevention and treatment method would help individuals with Down Syndrome overcome the adverse impact of their condition. The range of treatments that is currently available is based on the individual physical and intellectual needs of every person, along with their strengths and weaknesses. Early intervention and education therapies involve a variety of specialized programs that target very young children.

Early interventions have shown to improve future health and developmental outcomes for children diagnosed with Down syndrome. The assistance can begin early after birth and continue until a child reaches age three. Usually, after a child reaches the age, they receive interventions and support with the help of local school districts (NICHD, 2017). It is important to note that the majority of children diagnosed with Down Syndrome are eligible for free educational services under federal law.

An interprofessional team of healthcare specialists represents the critical tool for facilitating a multi-dimensional treatment for individuals with Down Syndrome. The responsibility of a primary care physician is providing development, growth, and medical guidance as well as carry out vaccinations. Speech therapists work on the abilities of children to communicate while physical therapists help children strengthen their muscles and improve their motor skills. The contribution of medical sub-specialists is also important and is implemented depending on the needs of patients and their medical challenges.

For example, endocrinologists, hearing and eye specialists, cardiologists, and other professionals may be engaged in the process of treating children with Down Syndrome. Occupational therapists can help children refine their motor skills and make everyday tasks more manageable. In addition, behavioral therapy is necessary to overcome mental health and emotional challenges that can accompany DS. Overall, maintaining the well-being of children with DS is a complicated process that requires the contributions of multiple healthcare professionals.

Summary

To summarize, Down Syndrome is an unpreventable genetic disorder associated with the abnormal division of cells. The condition presents significant physical, mental, and behavioral challenges that require addressing at the earliest stages of children’s development. While there is no unified treatment that would alleviate the burden of the disease, the comprehensive efforts of an interprofessional team could significantly improve children’s cognitive, physical, and developmental health. A positive outlook on the condition can help parents and their children cope with DS and address the health challenges that may come along the way.

References

Al-Biltagi, M. (2015). Down syndrome from epidemiologic point of view. EC Paediatrics, 2(1), 82-91.

Delabar, J., Alliquant, B., Bianchi, D., Blumenthal, T., Dekker, A., Edgin, J., … Busciglio, J. (2016). Changing paradigms in down syndrome: The first international conference of the trisomy 21 research society. Molecular Syndromology, 7, 251-261.

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.

NICHD. (2017). What are common treatments for Down syndrome? Web.