1 Turner Syndrome; Care Plan Katie Bernath Rasmussen University NUR3306 Professor Turner December 10, 2021 2 Care Plan: Turner Syndrome Turner Syndrome is a condition that only occurs in females. It happens when there is a complete absence or partial absence of an X chromosome, resulting in a 45, X karyotype (Beery et al., 2018). Turner Syndrome causes genetic alterations within the client (Mayo Clinic Staff, 2017). This is the most common chromosomal abnormalities, and 99% of fetuses do not survive and spontaneous abort in the first trimester. There are 1 in 2,500 female infants born with Turner Syndrome each year. Diagnosis typically occurs at birth or during pregnancy because of the phenotypic features presented (Beery et al., 2018). Genetic and Genomic Assessment Findings With the lack or partial lack of a X chromosome, the classic phenotypic features include neck webbing, smaller than average at full term birth, cardiac abnormalities, and pedal edema (Beery et al., 2018). At birth, infant girls with Turner Syndrome may have Lymphedema which is swollen hands and feet. Infants can also have sausage-like fingers and toes due to a combination of lymphedema and dysplastic or hypoplastic nails. The client may have dental issues such as arched palate, malocclusion, or dental crowding. Other characteristics include loose folds of skin called cutis laxa, a shield chest, short stature, and ovarian failure (Belleza, 2021). After diagnosis a full blood panel including screening for LH and FSH should be done regularly since long term complications can include an autoimmune disorder like hypothyroidism (Mayo Clinic Staff, 2017). Additional tests should be done such as: Echocardiography or MRI of the heart and aorta, hearing tests, glucose metabolism and renal collecting system for abnormalities (Belleza, 2021). 3 Genetic Testing Prenatal tests such as a cell-free DNA screening or fetal ultrasound can detect physical abnormalities such as heart defects, nuchal cystic hygroma (fluid filled cavity), or abnormal kidneysthat show signs of Turner Syndrome (Mayo Clinic Staff, 2017). Karyotyping which looks for the presence of a 45 X cell or the shortened leg of an X chromosome is a standard maternal blood test that can also be done during pregnancy or after delivery to diagnose Turner Syndrome. Additional testing prior to birth that can be done to test for Turner Syndrome is obtaining a small sample of amniotic fluid called an Amniocentesis. Another test that involves removing a small piece of tissue from the placenta called Chorionic Villus Sampling is another diagnostic test that can diagnose Turner Syndrome (Mayo Clinic Staff, 2017). Ethical Dilemma & Considerations Since Turner Syndrome can be diagnosed during the prenatal stage, this leaves the family with an ethical dilemma that the mother and father may choose to decide to terminate the pregnancy. Abortion is a controversial subject that is complicated when it comes to the components or quality of life of an unborn infant and the choices of a woman. If the parents find out ahead of time that their child has a high possibility of having Turner Syndrome, they must make the difficult decision to keep or terminate the pregnancy. There are many challenges that a family must face with a child that has Turner Syndrome. Some challenges could be worried about financial stressors and the possible struggles for their child in the future. One reason the parents might choose to abort is due to the reasons that woman with Turner syndrome will not be able to have biological children, have plenty of medical issues, and might not have the best life. The child will grow up and have her own ethical consideration of when and how to tell her 4 partner about her fertility issues (Clark, 2015). A reason that the mother or another family member might not want to abort is the belief that the unborn infant is still a human life and even though they will have many medical conditions they can still live a fulfilled life. While there are these ethical considerations, there are many more involved with medical treatments such as using Growth Hormone therapy used for young girls that have Turner Syndrome (Wasserman & Asch, 2012). Ethical theoretical foundations for genetic testing is to make sure the client receives the best possible care and treatment with respect when it comes their choice of treatment. It is important to use Ethical theoretical foundations when creating a care plan for a client. Provision 1 of the ANA Code of Ethics says to treat patients with compassion, respect their dignity, worth, and unique attributes (ANA code of ethics, n.d.). An individualized care plan is so important when considering the client’s needs. Provision 2, 3, and 4 must also be considered whencreating the care plan. The ANA Code of Ethics Provisions 2, 3, and 4, says, “The nurse’s primary commitment is to the patient. The nurse promotes, advocates for, and protects the rights, health, and safety of the patient and takes action consistent with the obligation to promote health and to provide optimal care (ANA code of ethics, n.d.). Sadly, some medical professionalswill have a biased opinion and will give the client advice instead of giving the client all the options that is available to them. A nurse must remain unbiased and always put their clients’ needs first as long as the client is competent to make those decisions. It is the nurse’s responsibility to provide the proper care and treatment for their client and follow the ANA’s Code of Ethics. 5 Assessment Nursing Diagnosis -Patient has -Experience low history of Turner self-esteem Syndrome /depression due to body -Patient has characteristics symptoms of: -Pedal edema. -Lymphedema is hand and feet. -Short stature less than typical for age. -Patient has feminine issues with her period or infertility. -Patient has Dental issues -Neck Webbing (Belleza, 2021) -Imbalanced nutrition: due to consuming more than body requirements as patient (Belleza, 2021) Goals/Expected Interventions Outcomes -Patient will identify feeling of perception of self. Patient will demonstrate behaviors to restore positive self-esteem. -Improve selfesteem. Help patient identify feelings and express them in a healthy way. -Growth hormone therapy - Improve physical health. -Patient will learn -Provide to make healthy activities food choices by (walking, bike going through food riding). groups. -Patient will (Belleza, 2021) maintain food diary -Collaborate -Patient will eat 6 with Dietician small meals to determine throughout the day patient’s caloric -Patient will needs. participate in at -Plan activities least 30 minutes of to discuss food physical activity groups and their daily suggested serving size. -Access patient’s weight (Belleza, 2021) and appetite (Fruh, 2017) -Encourage patient to consume foods low in cholesterol, calories, and saturated fats. (Fruh, 2017) Rationale Evaluation -Growth hormone therapy is commonly prescribed by physicians to stop stature Goals are met by patient’s demonstration of positive behaviors to help restore self-esteem. Patient also participated in treatment regimen with psychologist and taking Growth hormone therapy. (NIH, 2016) -Patient is referred to specialist (dietician and psychologist). -Patient met goals by meeting with (Belleza, 2021) Dietician and following dietetic plans. -Patient learned how to make healthy food choices, named food groups, and participated in physical activity for 30 minutes’ daily (Fruh, 2017) 6 Intraprofesional and Interprofession Strategies -For Intraprofessional Strategies: The Primary Care Team will be responsible for diagnosis, monitoring symptoms, and referring patient to other specialties. -For Interprofession Strategies:Referral to Cardiology for EKG, MRI of heart and aorta, evaluate 4 limb blood pressure. Referral to Endocrinology for Glucose metabolism, screening for diabetes mellitus and Thyroid function tests. Referral to Obstetrics and Gynecology for Growth hormone therapy. Nephology for Renal studies. Therapy for mental health and body issues. Dietician for food intake and management (Belleza, 2021). Care Plan/Conclusion The goal of the care plan is to support the client through any physical and/or mental challenge. Females are affected with Turner Syndrome due to alteration of one of the X Chromosomes. Individuals with Turner’s Syndrome may experience health problems, low selfesteem, and/or body issues. The nurse and other health care providers must work together to ensure their client is receiving the best quality care that can be provided. The nurse can help by identifying feelings and encouraging the client by providing additional resources. The one thing should remain constant though the entire process is the ethical obligations. This includes justice, autonomy, and beneficence. These obligations if upheld will help healthcare providers collaborate and reduce issues making the patient experience better and usually live a good fulfilled life. 7 References ANA code of ethics. (n.d.). https://www.vcuhealth.org/explore-vcu-health/for-heatlhprofessionals/nursing/about-nursing-at-vcu/ana-code-of-ethics. Beery, T.A., Workman, L.M., Eggert, J. (2018). Genetics and genomics in nursing and health care (2nd ed.). F.A. Davis. https://ambassadored.vitalsource.com/#books/9780803676824. Belleza, M. (2021, February 11). Turner Syndrome Nursing Care Management. Nurselabs. https://nurselabs.com/turner-syndrome/#further_reading. Clark, A.A. (2015). Turner Syndrome: Addressing how misconceptions overshadow opportunities for a “normal” life. https://www.counseling.org/docs/default. Fruh S.M. (2017). Obesity. Journal of the American Association of Nurse Practitioners, 29(S1), S3-S14. https://doi.org/10.1002/2327-6924.12510. Mayo Clinic Staff (2017). Turner Syndrome: Symptoms and Causes. Accessed December 10, 2021. https://www.mayoclinic.org/diseases-conditions/turnersyndrome/symptoms-causes/syc-20360782. NIH. (2016). Turner Syndrome Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. https://raredieseases.info.nih.gov/diseases/7831/turner-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.
