Down Syndrome

Inquiry question- Do all people with down syndrome develop mentally and
physically slower than people without down syndrome?

Cause and Effect:

Genetic Disease- Down syndrome
Cause of Disease- Down syndrome is caused
when the cell division cycle goes through an
irregulation within the development of the
offspring and results in three copies of a
chromosome 21 instead of two and adding up
to a total of 47 chromosomes rather than 46.
There are three types of down syndromes,
Trisomy 21, Translocation down syndrome,
and Mosaic down syndrome. The most
common type is ‘Trisomy 21’, around 95% of
people with down syndrome undergo Trisomy
21 ("Down Syndrome: Causes, Types, and
Symptoms", 2020). John Langdon Down, who
was the first person to identify Down syndrome as "Mongolian" in 1866 and by whom
the condition is now referred, was not recognised until the early 1970's ("National
Association for Down Syndrome | History of NADS", 2020).

Risk Factors- People with down syndrome are at risk of issues such as:
- Heart defects
- Hearing and vision issues
- Blood disorders
- Obesity
 - Thyroid problems
- forgetfulness
Such issues can cause risks throughout their daily life such as:
- Unable to concentrate for long periods of time
- Sudden heart attacks
- Frequently getting tired
- Lack of memory
- Difficulties in learning
These risk factors make it a struggle to proceed in life. It gives them twice as much
barriers they have to overcome.
Effect of disease- Down Syndrome affects a person in many areas. The disease
comes with many side effects such as epileptic illness or Alzheimer's disease
(COVID-19, et al.), let alone disease related health problems, defects in
development, and different physical features. Considering all such disease-related
health problems, the individual 's emotional,
physical , and social well being may be
seriously impacted causing anxiety, fatigue ,
insomnia, and lack energy for everyday
things ("Mental Health Issues & Down Syndrome -
NDSS", 2020). The average life expectancy is
60 years in Australia for those born with
Down syndrome, regarding lung disorders
and cardiac failure causing them to die earlier
than the general population. Down syndrome
can have several negative consequences
and each person handles them differently to a healthy way of life. Some individuals
are self-generated and will successfully go about it alone, while some will require
more support and care for themselves.
Nevertheless, during these modern times and
urbanised lifestyles, living a fulfilled life with
down syndrome can be an easy
accomplishment considering current technology
giving them a wide range of opportunities for
either employment, independent living, or
starting a family.

Mutations:

Type of mutation: Nondisjunction is the inability

to distinguish, usually during cell division, one or
more pairs of homologous or sister chromatids
that occur in the incomplete chromosome
division in a women's nucleus and cause a
mutation that causes syndrome down.
Nondisjunction occurs where the chromosome during meiosis is not broken up and a
peculiar number of chromosomes is produced. Nondisjunction of chromosome 21 is
the primary cause of Down syndrome. The decreased recombination in maternal age
and transition is two risk factors for maternal chromosome 21 separation. Around 96
% of Down syndrome cases are affected by nondisjunction of either the parent's sex
cells or the fertilised egg ("What is Down syndrome? (article) | Khan Academy", 2020). In this
case, an inability to differentiate chromosome 21 is not related to the condition of the
parents meaning the disease is not inherited, the chromosomal abnormality happens
automatically as parent reproductive cell formation takes place. The abnormality
typically takes place in the egg cells, but it occurs in sperm cells sometimes (2020).

Biological process- During Anaphase, the chromatids are separated by the

microtubules and drawn to the opposite ends of the cell. The cell is cytokinesis and
divides the cell into 2 cells and its mothers (Gottlieb, Kerndt&Tegay 2020). The cell is
made up of a chromosome and a chromosome and converts into cytokinesis.
Nevertheless, there is no disconnection because anaphase does not split a pair of
homologous chromosomes between two daughters. Within one cell there are two
copies of a gene and in the other cell there is no clone. If during meiosis II
development each of these cells is divided in two, all four of the cells produced that
have chromosome defects (Stylianos E. Antonarakis, 2020).
Epidemiology:
Incidence- Incidence refers to the number of newly people developing a disease or
experiencing a particular case over a specific amount of time ("Prevalence and Incidence
Defined", 2020).
Prevalence- Prevalence refers to the number of diseases occurring in a given
population at a given time instead of the amount of new cases being developed.
("Prevalence and Incidence Defined", 2020).
Mortality- The percentage of deaths in a population or in a given population number
(2020).
Prevalence statistics-
According to NDIS, of
September 2019, 10,249 people
were identified as primary
disability with Down syndrome.
Around 1 in every 1100 babies
born in Australia were estimated
to have Down syndrome. This
means that every year about 290
new babies are born with Down
syndrome. With age of parents,
the rate of child births with Down
syndrome decreases (2020).

Incidence statistics- Current

chromosomal disease remains to
be Down syndrome. Every year nearly 6.000 Down babies, or 1 in 700 baby births,
come to life with Down syndrome. Around 1979 and 2003 worldwide, there was a
rise of about 30 per cent in babies born with Down syndrome ("Data and Statistics on
Down Syndrome | CDC", 2020).

Mortality statistics- Nearly 100 percent of Iceland's women receiving a Down

syndrome positive diagnosis chose to terminate their pregnancy. As a result of
abortions, in Iceland with a total population of 330,000, only one or two babies with
downn syndrome are born each year. In 2010 the rate of abortion was 14.5 for 1,000
women between 15 and 44 years of age in Iceland. Landspítali includes
chromosome abnormality pre-natality screening. There are claims that the high
incidence of end of pregnancy in response to promising outcomes resulted in Down
syndrome being almost eradicated in Iceland ("Abortion and Down Syndrome", 2020).

Birth rate difference between developed and developing countries-

A developing world is an industrialised urbanised state in which the bulk of the
population leads to an economically secure life with convenient access to jobs,
healthcare and public services (e.g Australia). The developing countries are less
developed and urbanised, which is largely limited by poverty and low levels of
income (e.g Brazil). people will be struggling to get access to services as basic as
food and shelter and schooling. The big disparity between these two groups of
countries influences crucial factors in their culture and their affordability. The risk of
infants suffering from disease and mutants is increased by being in the Developing
World, because the low economic status decreases the availability of new and
specialised technology and equipment that can resolve the issue, leading to lower
birth rates in the region. That does not not extend to a developing world , despite the
urbanised environment and the appropriate facilities, for babies born with mutations
to be handled adequately and safely, even though the mutation does not have a cure
that modern day medicine is able to handle that disorder and have therapies to
maintain their health and welfare. This raises the nation's birth rates.

Birth rate in Brazil:

("Brazil - Birth Rate, Crude -
1960-2018 Data | 2020
Forecast", 2020)
Birth rate in Australia: ("Births in Australia", 2020)

Frequency of down syndrome in different countries: ^("Congenital Heart Defects in Europe |

Circulation", 2020)

The
rates
are

calculated by dividing the number of people born with down syndrome by the total people born. The
figure above displays the prevalence of down syndrome for every 1000 births. For example, in Austria
there are an average of approximately 13.4 people born with down syndrome for every 1000 births.
Prevention:
Most genetic defects are attributed to variations in the DNA that exist in most of the
cells of the body. It also has effects on other body functions and is not possible even
to treat these conditions. Nonetheless, solutions to some of their signs and
symptoms may be available to diagnose or control. Genetic technology is a new
biotechnology branch that enables a gene either to be changed or eliminated directly
or to be transferred from one animal to another. When genetically engineered plants,
poultry, and other species are transformed, they are called GMOs (2020). Two genetic
technologies that can be used to either prevent or manage a genetic disease before
or after birth are newborn screening and prenatal testing, these are forms of genetic
testing. Genetic testing is a form of medical examination to detect chromosomal,
gene or protein modifications. The genetic tests will validate or deny a possible
genetic disease or help to assess the likelihood of a person having or sharing a
genetic illness. There are presently over 1.000 genetic studies in operation and more
advances. There are many methods to use genetic testing, molecular, chromosomal,
or biochemical genetic testing (Reference, 2020). Newborn testing is a blood test that
allows doctors to diagnose unusual, serious disorders. The procedure is performed
within 3 days of birth before signs are visible. This is such that recovery can continue
before complications occur. Physicians should investigate the unusual hereditary,
physiological and biochemical disorders that may result in severe complications with
their safety (2020). Prenatal testing will decide if the baby has any birth defects, many
of them genetic abnormalities, more or less. These tests include blood tests, a
particular type of ultrasound and cell-free prenatal DNA test. Medical analysis can
not make a definitive diagnosis. Such scans are particularly useful for children who
have been born to mothers over 35, who are more vulnerable to genetic disorders
(2020). Genetic conditions can cause such serious health issues that life does not.
Such conditions can lead to a fabrication of the embryo or foetus involved in the
most serious cases. For other cases, children afflicted may die shortly afterward.
While such severe genetic disorders provide few therapies, health providers often
provide the affected patient with supportive services, such as pain relief or artificial
breathing assistance. There are many ways to manage a genetic disease regarding
the modernised technology and facilities there are today, however some genetic
diseases can only be managed and not prevented such as down syndrome.

Methods to control disease-

There isn’t a specific cure or method to prevent down syndrome as it is a result from
a genetic anomaly and a lifelong condition, however there are many treatments and
programs that help manage and sustain the disease. Treatments are based on the
physical and mental needs of each patient as well as their own abilities and
shortcomings. People with Down syndrome should be better taken care of in their
families and society.
This can be approached by:
● Physical Therapy- Physical exercise is
directed at better movement. Since infants
and adults with Down syndrome also have
low muscle tones and small hands, any
complications created by these
characteristics can be resolved by physical
activity. A physical therapy scheme includes
muscular strengthening and toning, improved strength and equilibrium, and a
stance adjustment. By encouraging and motivating individuals, it can raise
their self-esteem and better their mental health and views on themselves
("What are the Treatments and Therapies for Down Syndrome? | Otsimo", 2020) .

● Assistive Technology- Assistive technologies are used to identify tools that

help a disabled person work more
effectively. These devices may range from
hearing aids, pencils, seat covers, walking
aids and cell phones with large-buttons or
large-scale keys. For people with Down
syndrome who are struggling with fine
motor functions, touch screen tablets and
laptops are helpful. Technology for
education promotes learning through
engagement and application of sight , sound and touch, which can make
lessons more available and enticing ("What are the Treatments and Therapies for
Down Syndrome? | Otsimo", 2020).

● Speech language therapy- Down syndrome may have a different effect on

cognitive ability but typically causes moderate to mild intellectual disability.
Down syndrome children have deficiencies in speech ability. Language
 therapy focuses on communication and
language skills through the emphasis on
articulation, cognitive ability, and the
strengthening of oral muscles. For the baby
and youth, speech-language therapy may
be used. The general goal is to develop the
communication ability of the infant. One
thing to be vigilant about is the loss of hearing. For children with a Down
Syndrome, anatomic variations make them likely to maintain fluid behind
eardrum that can cause hearing impairment. Because the fluid will dry up, this
recurrent disorder also shows how a child is detrimental to learning the
audible language ("What are the Treatments and Therapies for Down Syndrome? |
Otsimo", 2020).

Current Research-
Dr. Michael M. Harpold, chief scientific officer of the LuMind Foundation says: “This
research will have a number of important potential research applications to better
understand aspects of Down syndrome and will provide very useful new laboratory
research tools and cells for molecular and cellular research, including laboratory
research relevant to cognition and other areas in Down syndrome. This represents
the primary research utility of this research. Any potential human therapeutic
approaches and applications based on this research, if any, will be many years
away; many significant technical hurdles remain.” ("Down syndrome: what is the current
focus of research?", 2020).
For individuals with Down syndrome, various symptoms and disorders may be
treated by diagnosis and care. In their lives medical treatment, assistance and
education are important. Like everybody else, Down syndrome people are going to
school, working, living in stable relationships and enjoying a good and productive life.
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