Background

Research
In the world of molecular biology, there are many congenital disease that is well-known and popular.
For instance, coarctation of the aorta and albinism. The congenital disease refers to the present of the
disease during the birth. One of the most popular and frequent congenital disease is Down Syndrome. As
specified by the World Health Organisation (WHO), approximately 1 in 1,100 lives is born with the Down
syndrome. In each year, there are 3,000 to 5,000 infant who was born with this disease.

Down syndrome is the result from fail to separate the chromosome during meiosis which is known as
nondisjunction chromosome mutation. In down syndrome, the chromosome that fails to separate is the
chromosome No. 21. As a result, there is 1 extra chromosome in chromosome No. 21. This is called Trisomy
21. Definitely, the result of extra chromosome causes the genes to express more than general because
normally we have only 2 homologous chromosome in each pair. Within the extra chromosome in chromosome
No.21, there is a gene called HSA21 that expresses in down syndrome disorder and causes various effects to
the patient. Apparently, the over expression of HSA21 gene effects the development of the patient in wide
variety way.

People with down syndrome usually have some level of mental retardation regardless to their lifestyle.
Down syndrome disorder not only effect the degeneration of the neuron cell and the damages of
neurogenesis, but also the decrease of dendrite formation. This will eventually result as an interruption during
the synaptic function. This is not due to the error of the chromosome separation only, but also the gene
expression from the epigenetic factor such as the DNA methylation as well.

Epigenetics is the the study about the change in gene expression in the individual that does not
change the DNA sequence. This might seem so confused ,but it simply means the alter in phenotype (the
expression of the gene) without any related to the genotype. The genotype (the DNA sequence) does not
change. But, how can the change in phenotype does not result from the change in genotype? This is
because the epigenetics usually results from the external influences such as environment and habits. As we
grow up, our age can also influence the alter of gene expression as well. The epigenetic markers in the
organisms can be added or withdrawn in our life depending on the lifestyle and environment.

Some of the physical features of down syndrome disorder are flat face, small ears, small eyes. The
gap between the big toe and the rest of the toe is quite large. People with down syndrome will be able to
stretch or extend some joints forward than normal.

The objective of this experiment is to prove that the epigenetics of the down syndrome changes the
expression of the HSA21 gene by DNA methylation process and finally effects the mental retardation level of
the patient.
 Is the ages of people who have down syndrome impact the
Question expression of the HSA21 gene which will eventually increase the
ability to think and decrease the mental retardation later on?

Hypothesis
As the patient grows up, the expression of the HSA21 gene will
decrease because of result from the DNA methylation.

Prediction
If children with down syndrome grow up and mature, then they will
able to learn new things easier and more quickly.

Experiment
Separate people with down syndrome into five different groups. Each group need to composed of 10
people with Down syndrome disorder. The first group will start at the age of 3 and the differences of the age in
each group is 2 years. Thus, there will be a five group with the age of 3,5,7,9 and 11 years old. Interview each
patient individually and see how well they response to us.
Example of the interview questions: What is your name?
How old are you?
Do you have any sibling?
What is your special talent?
Record the time that the patient take to response in each question and some data such as personal information.
Down Syndrome children are good at developing social skills and communicate with each other. Thus, in this
experiment, patient will be able to freely act and communicate with their friends. We will also take the cell
samples of each patient and quantify the DNA methylation of the HSA21 gene. Record the amount of DNA
methylation of each patient and always keep track of the amount of DNA methylation as well. Every groups
need to take the pre-test questions first before separate into five different classrooms. In the pre-test
questions, the content and questions will be exactly the same for every groups. After that, separate these five
groups into five different classrooms. The environment, surrounding, facilities, topics and activities in each
classroom will be the same as well.
 Experiment (Continue)

The duration for this experiment is 2 years. However, many studies show that Down syndrome children are
good at visual learning. During the learning class, we will provide the activities for the children. For example,
showing the video, pictures, diagrams and some demonstrations related to the topic what they learned. In
these two years, the topics will mostly focus on the numbers, colours, language and animals.
Examples of the topics:
1. Numbers: Count the number in both ascending and descending way. Easy to medium calculation level
2. Colors: Identify which color is shown in our daily life.
3. Language: Able to read, speak and listen in their native language and also know the alphabet letters
of the foreign language.
4. Animals: Identify the name of the animals and how is it look like. Know some basic information of the
animals such as where is the habitat of some organisms. Moreover, during the each days also monitoring and
record how well each kid interacts with each other and how well they response to us as they grow up. In
every 3 months, collect the cell samples of each patient and quantify the DNA methylation of the HSA21 gene.
Record the data into the table and see any differences of the numbers of the DNA methylation. Two years
later, every groups need to take the post-test questions but the questions will be the same as the pre-test. For
example, first, read the word that appear below. Second, read the color of that word. For instance, the word
Brown is appear in purple. So, you must say purple instead of brown.

Brown Yellow Pink Blue Green Orange

Red Black White Violet Grey Yellow

Brown Blue
The result of the post-test will let us know that how well the patient develop their learning as they grow up.
Compare the result of the pre-test and post-test together to see any differences or similarities before and
after they grow up and also between these five different group.
 Control
In this experiment, we start to monitoring the down syndrome children with the age of three
because their brain almost completely develop. Within the age of one to three years old, the neuron in the
brain will undergoes many changes. Finally in three years old, the neuron in the brain will occupy about 80%
of the adult volume.

The experiment will only focus on the age between 3 to 11 years old because within these age range the
children will show a significant develop in learning and interacting skills especially the emotional regulation.
As stated by the Children Development Institute, during the toddlers age (2-5 years old) the children will
start to develop their language skills and emotional regulation. Moreover, within the school age (6-12 years
old) the children will be able to practice their language skills with their friends and teachers. This is when
the mental retardation in the down syndrome children will play the important role. The patient in this
experiment can be either boy or girl because we will be able to see any differences in mental retardation
level in both gender along with.

This experiment can help to raise the awareness of the down syndrome disorder in childhood. We
should also emphasise on the children with down syndrome disorder to help them learn in the schools and
involve in activities as same as the other children. The schools should give the opportunity to down
syndrome children because these children is not ordinary children, so they need to be look after closely
and specially.
 Bibliography

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Divita, L. (2015). List of Congenital Diseases. Retrieved at December, 5 2016 from

http://www.livestrong.com/article/78805-list-congenital-diseases/.

Down Syndrome Education International. (N.D.). Development and learning.

Retrieved at December, 13 2016 from https://www.dseinternational.org/en-us/
about-down-syndrome/development/.

Lu, J. & Sheen, V. (2013). Genetic and Epigenetic Mechanisms in Down Syndrome
Brain. Retrieved at November, 29 2016 from http://www.intechopen.com/
books/down-syndrome/genetic-and-epigenetic-mechanisms-in-down-
syndrome-brain .

The Urban Child Institute. (N.D.). Babys Brain Begins Now: Conception to Age 3.
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December, 5 2016 from http://www.who.int/genomics/public/geneticdiseases/
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