Nursing care plan for Turner Syndrome PDF

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Full Etiology, Ethical dilemmas, ethical considerations/solutions, and a full nursing care plan for Turner Syndrome and a diagnosis within the syndrome....

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Turner Syndrome: Nursing Care Plan

Amanda Mencia Rasmussen College NUR3306: Integration of Genetics and Genomics Nicole Luther December 12, 2021

2 Turner Syndrome: Nursing Care Plan Turner Syndrome is a genetic condition that only affects females and is a result of one of the X chromosomes (sex chromosome) is partially or entirely missing. This condition can lead to various other medical and developmental issues, such as short height, failure of the development of the ovaries, lack of breast development, and heart defects. Symptoms can present themselves at various times and can be diagnosed prior to birth, during infancy or early childhood, and in some cases in teen or early adulthood. Those diagnosed with Turner Syndrome will require ongoing medical care with specialists. With many genetic tests comes risk, leading to ethical concerns and dilemmas that require knowledge of ethical concepts and considerations and the creation of a proper care plan. Genetic and Genomic Assessment Findings Most cases of Turner Syndrome are not inherited but is a result of chromosomal abnormality that randomly occurs during formation of reproductive cells in the affected person’s parent. If one of these atypical reproductive cells contribute to the genetic makeup of a child, then they will have a single X chromosome in each cell and lacking the other sex chromosome (Turner syndrome: MedlinePlus Genetics, 2020). The most common features in which this condition presents itself is short stature and lack of ovarian development; with other symptoms varying in degrees depending on each person’s genetic makeup. Turner Syndrome may affect the proper development of multiple body systems and can vary among each diagnosed individual. Many infants can be born with heart defects, commonly the aorta, or slight abnormalities in the heart structure, thus leading to further complications. This condition also increases the risk of hypertension (high blood pressure). Other complications include hearing loss due to the gradual loss of nerve function and vision problems with weak muscle control of eye movements

3 (strabismus) or nearsightedness. Malformation of the kidneys can occur and lead to possible hypertension and urinary tract infections. Women with Turner Syndrome have an increased risk of hypothyroidism due to Hashimoto’s thyroiditis and increased risk for diabetes (Mayo Clinic, 2017).

Skeletal issues may also arise with growth and development of the bones which also

increase the risk of abnormal spinal curvature, such as scoliosis or kyphosis and the development of weak and brittle bones (osteoporosis). Learning disabilities and mental health issues may not always occur but are risks of women with Turner Syndrome. Most women with Turner Syndrome are infertile, however, with the small number of women that may become pregnant are at a high risk of experiencing complications during their pregnancy. Diagnosis of Turner Syndrome most commonly takes place prior to birth through genetic testing but can sometimes be done postnatal. Before birth, Turner Syndrome may be suspected by prenatal cell-free DNA screening or ultrasound screening but can be confirmed with prenatal diagnostic testing, such as maternal serum screening, amniocentesis, and Chorionic Villus Sampling (CVS). Maternal serum screening involves blood being drawn from the mother to check for increased chance of chromosomal problem. Amniocentesis is when needle is inserted through the abdomen to remove a small amount of amniotic fluid and the cells are sent to be cultured and a karyotype analysis which analyzes the chromosomal makeup of the cells and occurs at 15-20 weeks pregnancy (UCSF Health, 2019). CVS testing involves removing a small piece of tissue from the placenta by a needle being inserted in the abdomen or a catheter through the cervix during ultrasound guidance. This tissue is cultured for karyotype analysis (chromosomal makeup) and occurs at 10-12 weeks of pregnancy (UCSF Health, 2019). There is a risk for miscarriage with both of these genetic tests. Sometimes, children receive a diagnosis

4 soon after birth or in early childhood because of any symptoms they are showing, such as webbed neck or other distinct physical features or development issues of Turner Syndrome. Ethical Considerations There are many ethical issues raised by the responses to women who are diagnosed with Turner Syndrome and by prospective parents to a child with Turner Syndrome. An article found in research focuses on four ethical issues involving the individuals diagnosed with Turner Syndrome and/or their families. These issues include the use of growth hormone (GH) to increase height, the use of 3rd-party oocytes to enable women with Turner Syndrome to become pregnant, the parental decision to remove and cryopreserve ovarian tissue from a child with Turner Syndrome, and the termination of fetuses diagnosed with this condition (Wasserman & Asch 2012). It is suggested that many of the difficulties related to Turner Syndrome are directly or indirectly related to social attitudes and behavior. This includes getting teased in school, health professionals’ assumptions that a woman will abort a fetus diagnosed with Turner Syndrome, and the social standard of bearing your own children rather than use of a third party. Ethical Foundations There are some ethical concepts that can relate to some of the dilemmas listed above, especially in the health care and medical professional side of things. Beneficence is the obligation of the physician to act for the benefit of the patient, whether it goes against their own beliefs or not, possibly being related to the common termination of a fetus diagnosed with Turner Syndrome. This is due to the fact that research suggests that lives of individuals with this condition, generally live an ordinary life, according to research studies (Wasserman & Asch 2012). However, autonomy allows any competent adult to make their own medical and health decisions, whether it is against their doctor’s beliefs or not.

5 Care Plan Diagnosis: Delayed Growth and Development Assessment

The developmental level and behaviors may be assessed through direct observation or a report from parent/caregiver. Assess current nutritional patterns, physiologic alterations, parental attitudes, stressors in the environment, general appearance, response/interaction with parents, personal and

Nursing Diagnosis Planning (goals)

social life. Delayed growth and development Good socialization, language, motor skills, self-care, and cognitive skills. These all depend on the age-appropriate behaviors of each one

Interventions (inter-/intraprofessional strategies)

Teach parents age-related developmental tasks and anticipatory guidance information. Provide opportunities for an ill child to meet age-related developmental tasks. (range with age of the child). Refer family to appropriate agency for

Rationale

counselling or follow up treatments. Interventions should be designed with particular developmental information and nurses must consider influence of primary caregiver/ parent figure on child’s development because parents control most psychological and social

Evaluation

influences. Ensure all interventions are effective and can be done through confirmation through conversation and observation of behavior. If it worked then remain as usual and stick with current care plan.

Conclusion

6 Many genetic conditions exist, Turner Syndrome being one of them. This results from a missing or incomplete sex chromosome in females. This condition can lead to many other complications making it very important to be well education of Turner Syndrome. There are many genetic tests offered to find out if an infant or individual has the condition, and the performance of these tests do pose a risk. Ethical dilemmas arise with this condition as well due to the fact that others, whether it be the physician or the family of the patient, the patient is legally allowed to choose what she wishes to do with.

7 References Cleveland Clinic. (2021, January 28). Turner Syndrome: Causes, Signs, Diagnosis & Treatment. Cleveland Clinic. https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome Mayo Clinic. (2017, November 18). Turner Syndrome - Symptoms and Causes. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc20360782 Turner syndrome: MedlinePlus Genetics. (2020). Medlineplus.gov. https://medlineplus.gov/genetics/condition/turner-syndrome/#inheritance Turner Syndrome Overview. (2021). Turner Syndrome. Retrieved December 10, 2021, from https://www.turnersyndrome.org/about-turnersyndrome? gclid=CjwKCAiAksyNBhAPEiwAlDBeLOpmF2LRKKeMDxX8TuLRkvw9RJTlzzraRn 6TixBKIRUV6T8HheJTbBoCifoQAvD_BwE UCSF Health. (2019, March 14). Prenatal Testing for Down Syndrome. Ucsfhealth.org; UCSF Health. https://www.ucsfhealth.org/education/prenatal-testing-for-down-syndrome Wasserman, D., & Asch, A. (2012). Reproductive medicine and Turner syndrome: ethical issues. Fertility and Sterility, 98(4), 792–796. https://doi.org/10.1016/j.fertnstert.2012.08.036

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