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Additionally, the development of animal models to help study the syndrome, examination of specific
genes and gene groups that may play a role in the syndrome. Another option is microsuction, which
involves inserting a needle through the tympanic membrane and using it to draw out the fluid.
Maternal age is a risk factor for conceiving a child affected with Down Syndrome. Some other
causes are a Robertsonian translocation or ring chromosome (Asim et al. 2015). As mentioned,
patients of Syndrome Down are likely to suffer from additional diseases. But if the drugs work, they
could possibly give this individual a better chance at independent life (Skotko 2014). Adding to the
list small children can also develop leukemia. Behavioral therapy and counseling also helps in
improving their skills which they previously lacked. (Medline Plus 2010). It has been found that in
women less than 20 years of age the incidence of Down syndrome is 1 in 1550 births whereas in
women over the age of 45 years the incidence is 1 in 25 live births. Individuals affected with Down
syndrome usually have 47 number of chromosomes but in some cases it is seen that these individuals
even have normal number of chromosomes. Maternal age is the most well-known risk factor as
reported for the disease. This diagnostic testing is used to detect nearly all chromosomal disorders.
Dr Potter found that the patients with Alzheimer’s disease had three chromosomes on chromosome
number 21 and the patients with Down syndrome also had three chromosomes on chromosome
number 21. However in some cases this type of translocation leads to abnormal fertilization and
hence abnormal birth. In particular, parents of 34 years of age and above should be very careful. This
founding was not surprising because it had repeatedly observed. These treatments are recommended
to start early in the child’s life. A variety of therapists can be used in early intervention programs and
throughout a person’s life to promote greatest possible development, independence, and productivity.
They may not get to choose the way they look or act but they add a sense of difference into society.
Initially, this experiment included a total of 128 childhood and adolescents, were diagnosed for 29
years (between 1981 and 2010) in the Nordic countries. The NICHD has conducted and supported
Down syndrome research since its founding including development of animal models to help study
the syndrome examination of specific genes and gene groups that may play a role in the syndrome
understanding how maternal age plays a role in the disorder and development of new methods of
diagnosis. 15 hours agoPaper Citations. In 1866, he published the first accurate description of a
person with Down Syndrome; However, it wasn’t until 1959 that Down Syndrome was identified as
a Chromosomal condition. Increased understanding of Down syndrome and early interventions make
a big difference in the lives of both children and adults with Down syndrome. Free Down Syndrome
Essays and Papers - 123HelpMe com. Individuals affected by Down syndrome also have a higher
chance of hearing and vision issues. Amniocentesis, Chromosomal translocation, Congenital heart
defect 2609 Words 7 Pages Identifying the barriers and facilitators to participation in physical
activity for children with Down syndrome. People who have Down Syndrome have learning
difficulties, mental retardation, a different facial appearance, and poor muscle tone hypotonia in
infancy. People with Down syndrome have an increased risk of certain medical problems, such as
heart defects, respiratory problems, and Alzheimer’s disease. Percutaneous umbilical blood sampling
(PUBS): -This type of test involves the drawing of umbilical blood from the fetus. Most often to test
for Down syndrome they will do it with a blood sample. Down Syndrome is named after John
Langdon Down, the British doctor who first described it in 1866.
Many times you can test for congenital disorders by means of ultrasound scans or blood work at as
early as 10 weeks and on. With the help of asymptomatic treatment the individuals suffering from
this syndrome can have a prolonged life. Example research essay topic Information About Down
Syndrome. It is the most common genetic disorder affecting more than 5,000 babies born in the
United States each year. Learning how to communicate is an ongoing process, individuals with
down syndrome might also benefit from speech therapy later on their life. Gastroesophageal reflux is
when your stomach contents have a backup into your esophagus. This paper ''The down syndrome ''
tells that down syndrome has been around since its discovery in the mid 19th century. In spite of
relatively stronger receptive vocabulary, poor syntax skills compromise discourse comprehension, and
with so many weak expressive skills language production often consists of brief simple statements
that convey only basic meaning. Give me your paper requirements and I connect you to an academic
expert. The sisters and brothers of families with an individual with down syndrome, by them
understanding and being aware. The tests which have been mentioned above should be carried out
before the pregnancy takes place so that the children do not have to suffer in their life. (Medline Plus
2010). Most often to test for Down syndrome they will do it with a blood sample. Down syndrome
is the most common genetic disorder, and it occurs when there is an extra copy of chromosome 21. It
is also observed that the inner corner of the eyes in patients with DS has a rounded fold of skin
called the epicanthic fold (Griffith, Moore, and Yoder 270). Amniocentesis: - This test is performed
on the basis of the amniotic fluid which can be drawn between the 15 to 20 weeks of pregnancy.
Trisomy 21 Down syndrome is when an embryo has three copies of chromosome 21 instead of two.
Most kids with Downs syndrome love to dance like me. The parents first need to learn how they can
cope with stress and other challenges wrought by this condition in order to fully appreciate that their
children irrespective of the condition they are. These abnormalities occur due to different reasons
such as radiations or chemicals. Down syndrome is a disorder that affects chromosome 21. Your
Down syndrome research paper can be devoted to less sophisticated things and still be interesting
and informative. The structural component does include an informal support that will be governed
by the obligation norms as well as affiliations. Depending on how severe the problem the child could
need life saving surgery. Trisomy 21 makes up 95% of Down syndrome individuals. People with
Trisomy usually have physical problems. In addition to this, others stated the. As for the formal
sources of support, they include the healthcare professionals as well as other health care
organizations. Discovery of DS DS may have existed in humans since the very beginning. Another
diagnostic test to determine Down syndrome is chorionic villus sampling or CVS in which a sample
of the chorionic villi is removed from the placenta to determine if the baby has a chromosomal
abnormalities or genetic disorders. NIHs research portfolio on Down syndrome includes efforts to
understand all aspects of the condition including related health problems and health outcomes.
Imitation of simple words, using ten opportunities per session, prompting, reinforcement and error
correction procedures has shown to work.
These abnormalities occur due to different reasons such as radiations or chemicals. Today I will be
taking to you about what I like to do everyday, what is the difference between the three types of
Down’s Syndrome and what things people should know about people when they have Downs
Syndrome. This test requires a blood sample in which the cells are tested for an extra 21st
chromosome. People with Down syndrome often have physical differences, such as a flat face and a
short neck, and they may also have intellectual disabilities. Moreover patients with Down syndrome
also suffer from abnormal immune responses. There are more than 250,000 people living in the
United States with a Down syndrome diagnosis Genetics. In the last 20 years, mouse models,
particularly the Ts65Dn mouse, have been widely used to understand the neurobiological basis of
intellectual disability. Atrial septal defects and atrioventricular valve malformations are also seen in
these patients. Usually the defect occurs in egg cells, very seldom does it occur in sperm cells (Down
Syndrome-Genetics Home Reference). The picture will be used to see the different shapes and sizes
of the chromosomes and pair them. The older the mother is at the time of conception, the greater the
vulnerability of conceiving a child suffering from Down syndrome Margulies, 2006. In the same year
John Down described children who had the same characteristics and were suffering from mental
retardation. The parents especially mothers need to be taught of the conventional therapeutic
strategies that are there which they can utilize towards aiding the growth and development of their
kids. Top of Form Brill, M. T. (2007). Down syndrome. New York: Marshall Cavendish Benchmark.
Many other research studies that have explored how having a child with down syndrome does affect
families. This mosaicism in patients results from mitotic nondisjunction of the twenty first
chromosomes in embryogenesis (Robbins et al 2005). The nuchal translucency scan measures the
translucent space in the tissue at the back of the baby’s neck. When an individual with Down
syndrome is affected by it, they develop a blockage in their airway because of their soft tissue and
skeletal defects. My mom also makes worksheets for me to do so I can understand what we do in
school more and they also help me catch on to the things we learn at school. Down syndrome can be
caused by one of three types of abnormal cell division involving chromosom 21. When you have this
type, it means that every single cell in your body has an extra chromosome attached to it. It is
believed that over time with the help of different resources and techniques a proper cure to this
syndrome would be sought out. Dr. Jerome Lejeune and Patricia Jacobs, in 1959, identified the link
between DS and the presence of an extra chromosome (Bowman-Kruhm 12). In contrast, they are
often similar in receptive vocabulary to their non-verbal cognitive level (Mengoni 2014). People with
down syndrome have been found to be signing up for trials of several drugs aimed at helping their
cognitive impairment. (Underwood 2014). Brian Skotko a medical geneticist who is now the co-
director for the Down Syndrome Program at Massachusetts General Hospital in Boston developed an
intellectual curiosity about the cause of his sister’s disorder, Down Syndrome. The characteristics of
Down syndrome are actually caused by the full or partial extra material of chromosome 21 (“What Is
Down Syndrome”). Chromosomes are units which are transferred from parent to offspring through
different processes. Whether we know someone with Down Syndrome or not, it is important as a
part of the community to have the proper knowledge when it comes interacting with someone who
has the condition. One of the strongest risk factor which causes Down syndrome is the maternal age.
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