Down Syndrome: Causes, Symptoms, and Diagnosis

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Down syndrome also knows as Trisomy 21. The disease is the most prevailing genetic disease around the world. It is also the most shared genetic source of intellectual disabilities emerging in about 1 in 400-1500 newborns (Kazemi, Mansoor et. al). According to Research In approximately 95% cases, the extra chromosome occurs as a result of meiotic nondisjunction or abnormal segregation of chromosomes (Kazemi, Mansoor et. al). Non-disjunction is when one cell splits in two. In Down syndrome it is when both chromosomes form into one cell and none go into the other cell form in. The cell division errors result in an extra copy of chromosome 21, which results in the name trisomy 21. The human body contains 23 pairs one from each parent. When an extra copy is made in chromosome 21 it is responsible for extra genetic material. It is well known to be associated with higher maternal age of 35 years of age and older (Larson and Hulten, 2015) (Ghosh, Feingold et. al, 2009).

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Epidemiology In Down syndrome (DS) Studies began in the mid 1800s when physicians had groups of patients that showed signs of downs syndrome such as short stature, specific facial features such as eye fissures, and flat nasal bridge. The Physician that DS was named after was John Langdon Down, which contributed to the findings that these features and distinctions emphasized on those affect individuals and those who may have intellectual disabilities (Sherman, Allen et. al, 2007). J. Langdon Down stated these distinct findings could be distinguished in the category of DS of his findings. By the 1960s DS identify the main genetic causes and identified the trademark affects of it, which still results in maternal age. It has been estimated that one in seven hundred and thirty two infants in the United States are born with Down syndrome (Sherman, Allen et. al, 2007).

For doctors and parents learning that the baby might have DS, the right courses and precautions are to be taken when proceeding with the pregnancy. For doctors making sure the right test and evaluations are done to determine a DS baby as well as properly informing the parents on everything. Research has shown that differences between doctor and parent can show poorer quality of communication (Huiracocha, Almeida et. al, 2017). With this information on the doctors is to properly inform and educate the parents on what courses to take with the diagnosis. Offering support groups and the educational resources they need for what ever their choice is with the baby. Courses should involve support, testing, educating, and options for the patient or parents on the diagnoses they receive.

Diagnostic Screening and assessments for Down syndrome is an imperative part of regular prenatal care and checks. There are multiple forms of testing on DS. More common screenings are that most common screening method contains the measurement of a combination of factors: advanced maternal age, multiple second trimester serum markers, and second trimester ultrasonography (Kazemi, Mansoor et. al, 2017). The first conveyed sign linked with DS was the thickening of the neck area. They assessments raise the rate to test for the chances of DS. When diagnosing and determination DS the testing of amniocenteses has been one of the main advances in obstetrical care was the introduction of prenatal genetic diagnosis, primarily by amniocentesis in the second trimester of pregnancy (Kazemi, Mansoor et. al, 2017). Amniocentesis is the most conventional invasive prenatal diagnostic approach used in the world. Amniocentesis is done before fifteen weeks of pregnancy is indicated as early amniocentesis (Kazemi, Mansoor et. al, 2017). This form of testing is controversial in that it has a percentage of causing a miscarriage. Even with this possibility it is the most accurate type of testing in early pregnancy.

Intervention in the care of Down syndrome starts as soon as the diagnosis is made. When caring for an individual with DS it is important for structured care. There is not just one way of treatment or care for DS. Managements are centered on each individual’s intellectual and physical abilities and needs (What are Common Treatments for Down syndrome, 2017). In addition consideration is taken into affect based on his or her limitations and personal strengths. When caring for someone with DS it is not just the parent or guardian. A care team that can include but is not limited to Physicians, Speech therapist, occupational therapist, physical therapist, Special educators, and social workers (What are Common Treatments, 2017). Each person on a care team has a special role in caring for the individual in some way. Whether they are providing daily care or occasional care, they are vital in support for both the rest of the team and the individual with DS. Providing the proper medical care from prenatal to adulthood can is vital in maintaing regular health visit in a multitude of areas. Allowing early intervention in the education system can allow them to start to receive the therapist and care they need to thrive and get assistance.

Challenges that come with the Down syndrome vary in degree. A variety of clinical conditions come associated with DS. Heart Defects, Alzheimer’s disease, leukemia, and gastrointestinal problems. According to research done neurological problems such as Alzheimer’s are at great risk after the age of fifty, which increases the risk of dementia up to seventy percent (Asim, Kumar et. al, 2015). In regards to cardiac problems a newborn with down sydrome has a fifty percent chance of having a congenital heart disease (Asim, Kumar et. al, 2015). These may include atrioventriculr cushion defect and ventricular septal defect. Looking into the challenges of hematological (blood) problems, Patients with DS has an increased risk of leukemia, which is the result of the presence of gene mutations. Another challenge and health concern is that research shows that up to eighty percent of children with DS are affected by some extent of hearing loss, sometimes complete loss (Pikora, Bourke et. al, 2014). Even minor hearing impairment will lead to complications in language or speech development. Along with hearing impairment there is an increase of vision impairment, which can usually be fixed with corrective lenses. With having health problems the increase of mental illness is also increased. Along with health condition, Different mental illnesses report has been high results of anxiety and depression (Pikora, Bourke et. al, 2014). With these results it can bring up the issues of how to treat the individual with either therapy or medication when combining it with other challenges of DS. In addition to these health condition that can affect the individual in major ways more challenges can be body weight conditions, thyroid conditions, muscle, bone, and skin issues, and eye and vision conditions (Pikora, Bourke et. al, 2014). All of these health issues can affect the daily life of the individual with DS.

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Down syndrome: Causes, symptoms, and diagnosis. (2019, Jul 26). Retrieved February 6, 2023 , from

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