What You Need to Know About 5

Most Common Genetic Disorders

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Genetic disorders can be the result of genetic abnormalities such as gene mutation or
additional chromosomes. The effects of abnormalities in an individual’s DNA were once
entirely unpredictable. However, modern medicine has produced methods of identifying
the potential health outcomes of genetic disorders, as evidenced by medical research
from educated, advanced-degreed nurse practitioners and practicing physicians. By
collecting the following evidence-based statistical observations, these professionals
have identified some of the current best practices for detecting, treating, and potentially
preventing some genetic disorders.

Down Syndrome
Typically, the nucleus of an individual cell contains 23 pairs of chromosomes, but Down
syndrome occurs when the 21st chromosome is copied an extra time in all or some
cells. Nurse practitioners and physicians commonly perform detailed prenatal screening
tests, like blood tests, that detect quantities of chromosomal material and other
substances in a mother’s blood. This type of testing can determine, with high accuracy,
whether or not a child will be born with Down syndrome. When a person is diagnosed
with Down syndrome, they are likely to exhibit varying levels of mild to severe cognitive
delays. Other markers of Down syndrome include a higher disposition for congenital
heart defects, low muscle tone, smaller physical stature, and an upward slant to the
eyes. According to the Centers for Disease Control and Prevention (CDC), approximately
one in every 700 babies born in the US will have Down syndrome. Also, the older a
mother is at the time of birth, the more likely the child is to have Down syndrome. [5]

Thalassemia
Thalassemia is a family of hereditary genetic conditions that limits the amount of
hemoglobin an individual can naturally produce. This condition inhibits oxygen flow
throughout the body. There is a 25 percent chance that children who inherit the
Thalassemia gene from both parents will be born with Thalassemia.[7] People who are
especially likely to be carriers of the faulty gene that is responsible for Thalassemia
include those of Southeast Asian, Indian, Chinese, Middle Eastern, Mediterranean, and
Northern African descent. With any form of Thalassemia usually comes severe anemia,
which may require specialized care such as regular blood transfusions and chelation
therapy.

Cystic Fibrosis
Cystic Fibrosis is a chronic, genetic condition that causes patients to produce thick and
sticky mucus, inhibiting their respiratory, digestive, and reproductive systems. Like
Thalassemia, the disease is commonly inherited at a 25 percent rate when both parents
have the Cystic Fibrosis gene. In the United States, there are close to 30,000 people
living with Cystic Fibrosis, and they frequently develop greater health problems. For
instance, 95 percent of male Cystic Fibrosis patients are sterile, and the median age of
survival for all patients is 33.4 years.[9] Educated nurse practitioners can extend the
typical patient’s survival time by offering effective care strategies that feature physical
therapy, as well as dietary and medical supplementation.

Tay-Sachs disease
The genetic condition known as Tay-Sachs is carried by about one in every 27 Jewish
people, and by approximately one of every 250 members of the general population. The
condition is caused by a chromosomal defect similar to that of Down syndrome. Unlike
Down syndrome, however, Tay-Sachs results from a defect found in chromosome #15,
and the disorder is irreversibly fatal when found in children.[10] Tay-Sachs disease
gradually destroys the nervous system, frequently resulting in death by age five. Adults
can also be diagnosed with Late-Onset Tay-Sachs disease, which causes a manageable
level of diminished cognitive ability. While detecting Tay-Sachs can be accomplished by
using enzyme assay methods or DNA studies, an option does exist to prevent the risk
entirely. Assisted reproductive therapy techniques can be conducted that test in-vitro
embryos for Tay-Sachs before implanting them into the mother. This can allow only
healthy embryos to be selected.
Sickle Cell Anemia
Sickle Cell Disease is a lifelong genetic condition that may be inherited when the Sickle
Cell trait is passed down by both parents to their children. The trait is more commonly
inherited by people with a sub-Saharan, Indian, or Mediterranean heritage. Sickle Cell
Disease causes red blood cells to change from their usual donut shape to a sickle
shape. This causes the cells to clump together and become caught in blood vessels,
triggering severe pain and serious complications such as infections, organ damage, and
acute respiratory syndrome. According to the CDC, Sickle Cell Disease affects
approximately 100,000 Americans. Additionally, one in every 365 African-American
babies is born with Sickle Cell Disease.[11] In contrast, one in every 16,300 Hispanic-
American babies is diagnosed with the disease. Modern advancements in medicine
have limited the mortality rate of Sickle Cell Disease by providing a greater variety of
vaccines and treatment options.

Giving birth to a child with a genetic condition can be concerning for parents, but
effective ongoing care from trained nursing professionals can significantly ease the
impact. Through a Doctor of Science in Nursing program, nurse practitioners can
expand their knowledge and practical ability to confront and mitigate these disorders.
By adding new expertise in the leading-edge detection, prevention, and treatment of
genetic disorders, advanced-degreed nurses can play a key role in helping parents,
children, adult sufferers, and society at large.

Down Syndrome
Down syndrome, the most common chromosome-related genetic condition in the U.S.,
affects development of the brain and body. People with Down syndrome face physical and
mental challenges, but can lead full and happy lives.

 A PP

 C

 Symptoms and Causes

 Diagnosis and Tests

 
  Management and Treatment

 Prevention

 Outlook / Prognosis

 Resources

OVERVIEW
What is Down Syndrome?

People with Down syndrome are born with an extra chromosome, which changes the way their
brain and body develop.

Down syndrome is a genetic disorder. Most babies are born with 23 pairs of chromosomes within
each cell for a total of 46. A chromosome is a structure that contains genes, which are made up
of your DNA. Genes determine how you form and develop growing in the womb and after birth.
The majority of babies with Down syndrome are born with an extra copy of chromosome 21,
with three copies of the chromosome instead of the usual two.

As a result people born with Down syndrome face some physical and mental challenges
throughout life. They typically have distinctive body and facial features that set them apart. They
are more likely to develop slowly, and are more at risk for some medical conditions.

Are there different types of Down syndrome?

Yes, there are three types of Down syndrome. They are:

 Trisomy 21: The term “trisomy” means having an extra copy of a chromosome. The
most common type of Down syndrome, trisomy 21, occurs when a developing baby has
three copies of chromosome 21 in every cell instead of the typical two copies. This type
makes up 95% of the cases.
 Translocation: In this type of Down syndrome, there is an extra full or partial amount of
chromosome 21 attached to another chromosome. Translocation accounts for 4% of the
cases.
 Mosaicism: In the rarest type (only 1%) of Down syndrome, some cells contain the usual
46 chromosomes, and some contain 47. The extra chromosome in these cases is
chromosome 21.
How common is Down syndrome?

Down syndrome is the most common chromosome-related condition in the U.S. Roughly 6,000
babies are born with the condition in the U.S. every year (about 1 in every 700 babies). More
than 400,000 people are living with the condition in the U.S. today.

What are the risk factors for having Down syndrome?

Researchers are unsure why Down syndrome occurs in certain people. Anyone of any race or
societal level can be affected.

What is known is that the risk of giving birth to a child with Down syndrome increases as
women grow older. Women aged 35 and older are more likely to have their pregnancy affected
by the syndrome. But because younger women have higher fertility rates, most babies with
Down syndrome are born to women under 35.

SYMPTOMS AND CAUSES

What causes Down syndrome?

Each human cell typically contains 23 pairs of chromosomes. Down syndrome occurs because of
changes in the way cells in chromosome 21 divide. Every person with Down syndrome has an
extra amount of this chromosome in some or all of their cells.

In the most common type of Down syndrome, trisomy 21, the condition occurs randomly and
isn’t inherited. However, when translocation or mosaicism is the cause of Down syndrome,
hereditary (passed down among family members) should be looked at as a cause.

What are the signs and symptoms of Down syndrome?

Down syndrome causes physical, cognitive (thinking) and behavioral symptoms.

Physical signs of Down syndrome can include:

 Short, stocky physical size, with a short neck.

 Poor muscle tone.
 Flattened facial features, especially the bridge of the nose.
 Small ears.
 Almond-shaped eyes that slant upward.
 Small hands and feet.
 Single deep crease across the center of the palm of the hand.

Common learning and behavioral symptoms of Down syndrome include:

 Delays in speech and language development.

  Attention problems.
 Sleep difficulties.
 Stubbornness and tantrums.
 Delays in cognition.
 Delayed toilet training.

Not all people with Down syndrome have all these symptoms. Symptoms and their severity are
different from person to person.

DIAGNOSIS AND TESTS

Is there a way to know if our baby will have Down syndrome?

Your healthcare providers can diagnose Down syndrome before your baby is born or at birth.

 In prenatal (before birth) tests called screenings, blood tests and ultrasound (imaging test)
are used to look for “markers” that suggest Down syndrome may be present.
 Other prenatal screenings used to diagnose Down syndrome
include amniocentesis and chorionic villus sampling (CVS). In these tests, a doctor
removes a sample of cells from the part of the womb called the placenta (CVS), or the
fluid surrounding the baby (amniocentesis), to look for abnormal chromosomes. You can
choose whether or not to have these prenatal screenings.
 At birth, providers look for the physical signs of Down syndrome. To confirm the
diagnosis, a blood test called a karyotype is done. In this test, the a small sample of blood
is taken and studied under a microscope to see if an extra amount of chromosome 21 is
present.

What if we find out that our unborn baby has Down syndrome?

If you find out the baby you’re carrying has Down syndrome, your providers will direct you to
resources to help you after your child’s birth. Several options are available (see Resources
section).

You may want to participate in counseling or join a support group. Counselors and support
groups help you prepare for raising a child with Down syndrome.

In support groups you can talk with other parents about their experiences living with Down
syndrome. It’s a great way to share practical advice on coping with the condition, its ups-and-
downs, frustrations and joys. You’ll find that you’re not alone.

MANAGEMENT AND TREATMENT

How is Down syndrome treated?
Treatment for Down syndrome varies. It typically starts in early childhood. The purpose is for
you and your child with Down syndrome to learn to cope with the condition, as well as treat
what physical and cognitive (thinking) challenges arise.

Your providers may help you develop a care team for your family member with Down
syndrome. The care team may include:

 Primary care providers to monitor growth, development, medical concerns and provide
vaccinations.
 Medical specialists depending on the needs of the person (for example, cardiologist,
endocrinologist, geneticist, hearing and eye specialists).
 Speech therapists to help them communicate.
 Physical therapists to help strengthen their muscles and improve motor skills.
 Occupational therapists to help refine their motor skills and make daily tasks easier.
 Behavioral therapists to help manage emotional challenges that can come with Down
syndrome.

What other medical conditions are associated with Down syndrome?

People with Down syndrome often have associated medical conditions that are either present at
birth or develop over time. These can often be managed by medications or other care. Common
conditions of Down syndrome can include:

 Heart problems, frequently present at birth.

 Thyroid abnormalities.
 Hearing and vision problems.
 Low fertility rate in males with the syndrome. Around 50% of women with Down
syndrome are able to bear children, but the risk of the child having the condition is
between 35%-50%.
 Sleep apnea.
 Gastrointestinal problems, like constipation, gastroesophageal reflux (when fluid from
the stomach re-enters the esophagus) and celiac disease (intolerance for wheat protein).
 Autism, with challenges with social skills, communication and repetitive behaviors.
 Alzheimer’s disease, which causes memory and thinking problems in older age.

Is there a cure for Down syndrome or can it go away in time?

No. Down syndrome is a lifelong condition and right now there isn’t a cure. But many health
problems associated with the condition are treatable.

PREVENTION
Can Down syndrome be prevented?
Down syndrome can’t be prevented, but parents can take steps that may reduce the risk. The
older the mother, the higher the risk of having a baby with Down syndrome. Women can reduce
the risk of Down syndrome by giving birth before age 35.

OUTLOOK / PROGNOSIS
What is the outlook for people with Down syndrome?

Many traits and conditions in people with Down syndrome are manageable with treatment and
therapies. Medical care, support and education help them throughout their lives. Like anyone
else, people with Down syndrome go to school, work, have meaningful relationships and can
lead healthy and active lives.

How long do people with Down syndrome live?

Many people with Down syndrome live to age 60 or older.

Are people who have Down syndrome at greater risk for developing
Alzheimer's disease?

People with Down syndrome are at greater risk for developing Alzheimer’s disease. According
to the Down Syndrome Society, Alzheimer’s disease is diagnosed in about 30% with Down
syndrome in their 50s and in about 50% of those in their 60s.

Studies show the extra full or partial chromosome contributes to this increased risk of
Alzheimer’s. Genes on chromosome 21 produce amyloid precursor protein, which plays an
important role in the brain changes seen in Alzheimer’s patients.

RESOURCES
What resources available for people with Down syndrome and their families?

Many resources are available to people with Down syndrome and their families. Parents of
children with Down syndrome may need support with the special needs of their infants and
toddlers. Many families join Down syndrome support groups to share experiences and ways to
help their children live a healthy, full life.

People with Down syndrome will likely need assistance throughout their lives. In addition to
ongoing therapies, this could include help with education, employment and living independently.
A variety of organizations offer resources to help educate and empower people living with Down
syndrome and their families.
The National Down Syndrome Society and the National Association for Down Syndrome are
two of the most common resources people use for more information and support. Other resources
include:

 Brighter Tomorrows
Brighter Tomorrows is a resource for parents who have received a diagnosis of Down
syndrome either prenatally or at birth. Get answers to common questions, learn more
about the condition and experience stories of other parents touched by Down syndrome.
 Down Syndrome Pregnancy
Information and support to expectant parents preparing for the birth of a baby with Down
syndrome.
 International Mosaic Down Syndrome Association
Offers support and resources to families of and people with mosaic Down syndrome.