Jennibeth D.

Baculna
1. Choose one of the following birth defect Down Syndrome or Cystic Fibrosis and explain the
following:
a. Explain the disease
b. How it impacts a childs life
c. What provisions can be extended to help the child
Cystic Fibrosis is a life threatening disorder and considered a defective gene, a disease
passed down through families that causes thick, sticky mucus to build up in the lungs, digestive
tract and other areas of the body. The mucus builds up in the breathing passages of the lungs and
in the pancreas, the organ that helps to break down and absorb food. People with this disease
suffer from breathing problems.
The collection of sticky mucus results in life-threatening lung infections and serious
digestion problems. The disease may also affect the sweat glands and a man's reproductive
system. Children with Cystic Fibrosis are diagnosed at the age of two (2) years old. Livingwith
this disease can be tough for young children. Their lives will be characteristically limited
comparedtothoseofotherkidsbecauseoftheircondition.Theycannotdoallthethingsthat
normal, healthy children can do. Since their pancreas is also affected, children with this
conditionexperiencepoorgrowthrates,evenmalnutrition.Mostofall,becauseCysticFibrosis
hasnocureasyet,thesechildrenwillhavetodealwiththeirillnessfortherestoftheirlives.
As to the treatment, bronchial drainage, prompt treatment of respiratory infection, dietary
management. Advances in medical care allow survival with good life quality into middle
adulthood. Moreover, the treatment for cystic fibrosis aims to slow progression of the condition
which includes chest physiotherapy, antibiotics, inhalations via a compressed air pump and
nebulizer, enzyme replacement capsules with meals and snacks, a well balanced diet high in
protein, fat and kilojoules, supplementary vitamins, salt supplements and regular exercise.
2. Expound this principle of development: Early foundations are more critical than later stages
of development.
This principle of development implies that the most important stage of development is the
very first stage or foundation. It is the time when an individual are given and taught the ABCs of
life and what they acquire in the early life becomes part of who they are later on. The attitudes,
habits and patterns of behavior established during the early years determine to a large extent how
successfully individuals will adjust to life as they grow older. Basically, the latters premises is
the primary reason why the early foundations are more critical than later stages of development.
3. Discuss five prenatal hazards.
Maternal diseases - Toxoplasmosis is a mild infection that causes cold-like symptoms or no
apparent illness in adults, but can cause eye defects, brain defects and premature birth in the
fetus. Maternal diseases and infections can produce defects by crossing the placental barrier.
Maternal diseases and disorders that can affect prenatal development include Rh factor

incompatibility, high blood pressure, diabetes, rubella, and sexually transmitted diseases such as
toxoplasmosis, gonorrhea, syphilis, chlamydia, genital herpes, and AIDS. The effects of maternal
diseases rely on the stage of fetal development during which they are contracted, and the length
of time that they last. Secondly, the environmental problems such as environmental pollutants
and toxic wastes. The dangerous pollutants can include carbon monoxide, mercury and lead.
Radiation, chemicals and other hazards in the environment can endanger the fetus. For a
pregnant woman, drug and alcohol abuse is very dangerous. First, drugs and alcohol may harm
her own health, interfering with her ability to support the pregnancy. Second, some drugs can
directly impair prenatal development. Virtually all illegal drugs, such as heroin and cocaine, pose
dangers. Legal substances, such as alcohol and tobacco, are also dangerous, and even medical
drugs, both prescription and over-the-counter, can be harmful. At the prenatal stage, certain drugs
and alcohol may damage organs that are still developing, such as the eyes, as well as the nervous
system.
Drug and alcohol use also increases the risk of miscarriage and premature delivery. The
greatest danger drugs and alcohol pose at this stage is their potential to interfere with normal
growth. Alcohol breaks down chemically to a cell-damaging compound that is absorbed by the
fetus. Drinking during early pregnancy greatly increases the risk of birth defects known as fetal
alcohol syndrome. Smoking. Low birth rate, the more the woman smokes, the smaller her baby
will be, smoking increases the risk of sudden infant death syndrome and finally it increases risk
of spontaneous abortion, fetal death, low implantation of the placenta, premature separation of
the placenta, bleeding and pre-term delivery.
4.

Which is more serious and which is more common: dominant genetic disorders or recessive
genetic disorders? Please discuss.

The serious disorder is the recessive genetic disorders since the defect does not appear
because the abnormal gene overruled by a normal gene. The carrierofthisdisordershowsno
signsofthedisorderbutcouldpassthegeneontohisorherchildren.Insomegroups,itismore
likelythatbothparentswillcarrythesameabnormalrecessivegene.Inaddition,therecessive
geneticdisorderscomprisesofamoreseriousdiseasesthanthedominantgeneticdisorderssuch
asthecysticfibrosis.Thedominantgeneticdisorderthemorecommonsinceiftheaffected
parenthasthisdisorderwhichdominatesitsnormalcounterpart,chancesare,eachchildinthe
familyhasa50%chanceofinheritingthediseasecausinggeneandthedisorder.
5. What would you do if you knew you were the carrier of a gene for a serious disease?
Ideally, if I am at risk for being a carrier of the disorder, I will have the opportunity to be
screened before I try to conceive. This way, if I find out that I and my partner are both carriers, I
will have a wider range of options such as meeting with a genetic counselor who will be able to
tell me more about the condition and help sort out my reproductive choices.
I may opt not to conceive or may decide to try artificial insemination with donor sperm.
Another option, although it's very expensive, is to have in vitro fertilization, which allows for

genetic testing of the embryo before it's implanted and of course, I may decide to go ahead and
get pregnant the old-fashioned way and then have prenatal diagnostic testing to see if my baby is
affected.
6.

"Once there was a king, who had a beautiful, large pure diamond. There was no other
diamond like it in the world. One day, it became deeply scratched. The king called his best
diamond cutters, Ill promise you a great reward if you can remove the imperfection from
my jewel. But they could not. The king was very upset. Many months later, a man came to
the king. He promised to make the diamond even more beautiful than it ever had been.
Impressed by the mans confidence, the king consented. He watched as the man engraved
an exquisite rosebud around the blemish and used the scratch to make its stem".
Why can this story be equated with birth defects?
-The story can be equated with birth defects mainly because a child who is suffering with
birth defects may not clearly be perfect physically, however, they can still able to perform
what normal children do. They have the ability and opportunities that awaits them in life. It
is all about taking initiatives and overcoming difficult obstacles, by doing these, it all
requires the ability to do it. Individuals having birth defects are also considered fixed
persons. Appreciating the beauty even if the blemishes are visible.

7.

The term maturation refers to the orderly and sequential developmental changes which
occur in the nervous system and other bodily structures controlled by our genes. Discuss the
role of readiness and training in consonance with maturational process in the unfolding of
behavior and traits determined by heredity.

-The child must be properly trained in accordance with their age. If they are given proper
training during the early age, they can attain full maturity. You cannot expect a two (2) years old
child to know and learn the algebra. If they are presented with situations during their
corresponding age, they begin to absorb it and once they reached the proper age, they are ready
and fully-trained, thus, they easily become mature.