Care Plan-Turner Syndrome

Expected Genetic and Genomic Assessment Findings

Turner Syndrome is a genetic disease affecting females whereby one of the X chromosomes is either partially or completely missing. According to Gravohlt et al. (2019), a child with Turner syndrome can have a variety of developmental and medical problems, including heart defects, failure of the development of ovaries, and short height. Turner syndrome can be diagnosed prenatally, during infancy, or in early childhood. For females with mild symptoms and signs, diagnosis is delayed to teenage or early adult years. Do you need any help for completing your assignment ? Contact us at eminencepapers.com. We endeavor to provide you with excellent service.

Cui et al. (2018) point out that chorionic villus sampling is a prenatal test where the placenta tissue is tested for chromosomal abnormalities. The test is often done between the 10^th and 12^th week of gestation, though it does not detect neural tube defects such as spinal bifida. Hence, a woman should have a blood test for follow-up at 16 to 18 weeks for neural tube defect screening. Another test that can be performed is amniocentesis, where the amniotic fluid sample is tested for chromosomal defects. Amniocentesis is done between the 15^th and 20^th weeks (Cui et al., 2018).

Ethical Considerations for Genetic Testing and Potential Ethical Dilemmas Of Care For This Population

In the genetic testing for Turner syndrome, there should be a balance between libertarian and utilitarian interests. A number of ethical considerations should be examined when making moral decisions, such as autonomy, respect for privacy, the responsibility for the future genetic health of the child, personal best interest, minimizing social harm while maximizing the social best interest, respect for difference, the individual’s reproductive liberty, and genetic justice. These considerations maximize the benefits for society and the individual and minimize the harmful effects.

Women with Turner syndrome and also prospective parents of a child with Turner syndrome face challenges and issues. Some of the issues include the use of growth hormones to increase the height of the child, the use of third-party oocytes to enable a woman with Turners to be pregnant, a decision by the parents to remove and preserve ovarian tissue from their Turner syndrome child; and fetus termination following diagnosis of Turner syndrome. Most challenges are linked to societal practices and attitudes both directly or indirectly, including professionals in healthcare assuming that a pregnant woman will abort a fetus with Turners and harsh bullying in schools. Interventions that aim at reducing the difficulties of Turner syndrome women should be done with caution as they raise concerns about consent and risk. The said interventions offer a medical solution to a partly social problem.

Pertinent Ethical, Theoretical Foundations To Develop Plan Of Care.

As children with Turner syndrome grow older, there is a clear diversion of their intellectual, psychosocial, and phenotypical development in comparison to their peers. Reimann et al. (2018) note that a child with TS will have verbal skill strengths but poor arithmetic, executive function, and visuospatial processing performance. Girls with TS will also experience difficulty in social cues encoding as well as have inappropriate behavior in social situations. Impaired social interactions and deficits in mathematical abilities continue throughout adult life.

In caring for the patient, early diagnosis is important as treatment of comorbidities can start early to enhance the patient’s medical state. Psychological testing and routine screening of TS patients should be done to determine developmental progress. Additionally, adolescents transitioning from pediatric to adult care should be monitored keenly. The authoritative and protective environment of pediatric patients is different from that of adult patients, as the latter requires patient autonomy and a level of responsibility and independence. A patient’s readiness should not be assumed, and the adolescent needs to be guided through the transition to ensure that care continues throughout adult life.

Care Plan to Meet the Needs of This Client Population

The main aspects of Turner syndrome management in children are the monitoring and treatment of cardiovascular complications, including congenital heart disease; linear growth supplementation using growth hormone therapy; sexual development supplementation using estrogen therapy; and bone mineral density development and preservation that starts at pre-teen years (Shankar & Backeljauw, 2018).

System/Professional Assessment and Monitoring	Evaluation	Timing
Auditory-primary care physician (PCP)	Sensory neural loss of hearing	At diagnosis Every 1-5 years
Bones-Orthopedic specialist	Osteoporosis Osteopenia Estrogen therapy, exercise, vitamin D supplements	From 10 years onwards
Cardiovascular-PCP and cardiologist	Congenital heart defect detection Blood pressure checks on all extremities Hyperlipidemia for older girls and adults	At diagnosis Every 5-10 years onwards
Dental-dentist and orthodontic surgeon	Malocclusion and tooth anomalies	From 7 years
Genetics	Laparoscopic gonadectomy for prevention of gonadoblastoma	All age
Immune- PCP and immunologist	Thyroid function tests to detect thyroiditis Celiac disease detection	At diagnosis Every year afterwards
Hepatic- Hepatology consult	Control elevation of liver enzymes Hepatic steatosis evaluation through ultrasound	From 6 years of age and every year afterward
Lymphatic-PCP	Control for lymphedema using support stockings	From age 1 year.
Metabolic	Control development of diabetes and obesity	All ages
Skeletal growth	For short stature (administer growth hormone); hip dislocation in infants; and scoliosis in teens.	From nine months to adulthood
Reproductive	Estrogen therapy for the pre-teen High risk consult for planned pregnancy; infertility consult for assisted fertility; estrogen replacement for estrogen deficiency (Morgan et al., 2019)	Pre-teen to adulthood
Renal-Urologist	Ultrasound to detect and for management of congenital renal malformations	At diagnosis
Ophthalmologic- Ophthalmologist	Ophthalmologic evaluation for strabismus and hyperopia	From one year
Psychological-Psychologist	Psycho-educational evaluation for learning issues and self esteem	At all ages

References

Cui, X., Cui, Y., Shi, L., Luan, J., Zhou, X., & Han, J. (2018). A basic understanding of Turner syndrome: incidence, complications, diagnosis, and treatment. Intractable & rare diseases research, 7(4), 223-228.

Gravholt, C. H., Viuff, M. H., Brun, S., Stochholm, K., & Andersen, N. H. (2019). Turner syndrome: mechanisms and management. Nature Reviews Endocrinology, 15(10), 601-614.

Morgan, T. L., Kapa, H. M., Crerand, C. E., Kremen, J., Tishelman, A., Davis, S., & Nahata, L. (2019). Fertility counseling and preservation discussions for females with Turner syndrome in pediatric centers: practice patterns and predictors. Fertility and sterility, 112(4), 740-748.

Reimann, G. E., Perman, M. M. B., Ho, P. S., Parks, R. A., & Comis, L. E. (2018). Psychosocial characteristics of women with a delayed diagnosis of Turner syndrome. The Journal of pediatrics, 199, 206-211.

Shankar, R. K., & Backeljauw, P. F. (2018). Current best practice in the management of Turner syndrome. Therapeutic advances in endocrinology and metabolism, 9(1), 33-40.

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