Trisomy 13 Case Study

The condition pictured in this lesson is Trisomy 21, which is a well-known condition called Down syndrome. It is the most common birth defect in the United States, and it’s named after the physician who first diagnosed it as a syndrome, John Langdon Down. (1) Down syndrome, in most cases, affects every cell of the body, and can cause multiple difficulties mentally and physically. Despite the hardships people born with Down syndrome have, 50% will live longer than 50 years old, and with the right support, live meaningful lives. (1)

Any type of tutoring, after school sessions, or one on one time with a teacher or parent will always be helpful. Medical Research. There is no medical research currently being done for Triple X syndrome. There is a good understanding of how this disorder is created and how it has to be handled. It is very hard to tell the disorder before birth due to the last chromosomes setting in.

Psychologist says that being a victim of this syndrome have various negative impact on the child. As most of parent’s attention goes to oldest and youngest siblings so

About one in every 33 babies in the United States is born with a birth defect. A birth defect, according to Kids Health, part of the Nemours Foundation’s Center for Children’s Health Media, is defined as abnormalities of structure, function, or body metabolism that are present at birth. It’s said that birth defects are one of the leading causes of infant death in the first year of life. Birth defects can range from mild to severe. MedlinePlus, The National Institute of Health’s website says that babies with birth defects may need to have surgery or other medical treatments.

Trisomy 18, or Edwards Syndrome, was discovered by a man named John Hilton Edwards in 1960, and is a condition that causes severe developmental delays because of an extra chromosome 18. Edwards was a professor of genetics at Birmingham and Oxford, he first saw Trisomy 18 in stillborn and abnormal babies. Trisomy 18 is the second most common trisomy after Trisomy 21. Trisomy 18 is not inherited, but completely random, it is caused by an error in cell division known as meiotic disjunction. The following essay will go over the signs, symptoms, mutation, and how to make the child with Trisomy 18’s everyday life as normal as possible.

Down syndrome is a very common genetic disorder. 1 in every 691 kids are born in the United States has it according to the National Down Syndrome Society c. Symptoms of Downs include: mild to moderate mental disability, stunted growth, low muscle tone, and thyroid issues, higher risk for Alzheimer’s and heart failure. (Genetic Disorders Sourcebook, Third Edition) (Transition: Now that you have a better understanding of what Down Syndrome is, let’s take a look at the 2 most common ways Trisomy 21 occurs) II. Although there are more than two ways to acquire the extra 21st chromosome that causes Down Syndrome, I’m only going to cover the two most common.

Nurses have to face with patients, families, physicians, and other professionals who are a

The Joint Commission in 2011 also described a clear and safe communication as timely, accurate, and usable (Arnold, et al., p.23). This positive quality of communication is evident in the interaction of Shona and the nurse, as the nurse asked Shona “Can you explain that further?” in regards to the situation that Shona is feeling — from this, the nurse is trying to understand Shona’s condition as she assesses the situation. In a nursing process, communication standards and skills are an integral component of knowledge (Arnold, et al., p.29) that allows nurses to understand a patient’s condition, thus, provide compassion and respect for their patients. This is evident in the nurse’s intervention to Shona’s struggles as she encouraged Shona to not to think about her conflicts and focus on happy things like her children— which shows empathy and

It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme.

I also learned that it’s okay to get involved emotionally with the patient as we become family sometimes. We as the nurse should strive to make an impact in our patient’s lives as well as their family members. Majority of the time we are caring for and see the patient at their most vulnerable time. You may not always feel like you’re making a huge impact in a patient’s life but sometimes the smallest things make the biggest

I observed a four year old girl that was tiny for her age. She worked on proprioceptive and vestibular input like the other children. One major difference is that her condition has not been diagnosed. The doctor suspect a chromosome issue, but her family has not gone for additional testing. Although she can recognize shapes, colors, and letters, she is still delayed.

Noonan Syndrome Having a family member or child with an uncommon condition can be pretty extreme. When it comes to these conditions, they are usually some sort of mutation or run in the family 's genetics. Noonan Syndrome is a rare condition that affects an individual 's physical appearance, mental state, and genetic makeup, but varies in each affected person. In 1963, Noonan Syndrome was first described by a heart-specialist, Jacqueline Noonan.

In the past I have shown my strength in this area of nursing care when looking after family members that have fallen victim to sickness. Whenever someone tells me that they are not feeling well, I immediately jump into action and try my best to make sure that they feel “cared for” .The feeling of pride and satisfaction I experience after caring for a person that is unwell is what originally made me choose nursing as a career. Caring is a basic attribute of human growth and development (Griffin 1983). This is why, as a nursing student I know it is such an important strength to be utilised when helping a patient to feel better.

According to Julia Wood (2004), “communication is a systemic process in which individuals interact with and through symbols to create and interpret meanings. However, Sheppard (1993) suggests that, in the nurse–patient relationship, communication involves more than the transmission of information; it also involves transmitting feelings, recognizing these feelings and letting the patient know that their feelings have been recognized (M, 1993)”. It is a two way process. The patient conveys their fears and concerns to their nurse and helps them make a correct nursing diagnosis.

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