DNP 810 Refer to the complex inheritance health issue identified in DQ 1

DNP 810 Refer to the complex inheritance health issue identified in DQ 1

DNP 810 Refer to the complex inheritance health issue identified in DQ 1

Researchers are learning to predict people’s chances of developing diabetes. For instance, most white people with type 1 diabetes have genes associated with autoimmune diseases. Suppose their child is white and shares those genes, their child’s risk increases (McCarthy, 2019). Suspect genes in other ethnic groups are less well studied; however, scientists believe that the gene may also put African Americans in danger. One screening involves an antibody test for children with type 1 diabetic brothers and sisters. The test measures antibodies against insulin, islet cells, and an enzyme called glutamic acid decarboxylase (GAD). Elevated rates may suggest a child has a higher risk of developing type 1 diabetes. An additional genetic test for monogenic diabetes is to provide a blood or saliva sample from the DNA. The DNA analyzes changes in the genes that cause monogenic diabetes (Pinto et al., 2021). Abnormal results can determine the gene responsible for diabetes in a particular person or show if a person is likely to develop a monogenic form of diabetes in the future. Genetic testing can help select the most suitable therapy for people with monogenic diabetes. Also, understanding the risk of having a child with monogenic diabetes is critical in pregnancy planning. Nurses trained DNP’s are able to apply the knowledge of genetic tests through diagnosis, disease prognosis, treatment, and advice. 

Reference

McCarthy, J. (2019, May 23). How genetic testing is benefiting patients with diabetes. Precision Medicine Advisors. Retrieved June 21, 2022, from https://www.precisionmedicineadvisors.com/precisionmedicine-blog/2019/4/30/how-genetic-testing-is-benefiting-patients-with-diabetes

 Pinto, D. L., De Araújo, R., Cruz, S. A., Canavarro, T. A., & Brito, M. A. (2021). Diabetes monogênico: Diabetes tipo mody, diabetes neontal / monogenic diabetes: Mody diabetes, neonatal diabetes. Brazilian Journal of Development, 7(12), 114188–114205. https://doi.org/10.34117/bjdv7n12-276

Sickle cell disease (SCD) is one of the complex inheritance health issues that result from the presence of a mutated form of hemoglobin, hemoglobin S (HbS). The inheritance of the mutation can be homozygous or heterozygous in conjunction with another hemoglobin mutation (Sanyaolu et al., 2020). Screening for HbS after delivery is currently mandatory in the United States. It is a case-finding method that enables providers to initiate early treatment and control.

Hemoglobin electrophoresis is one of the available genetic tests I would use to screen and diagnose individuals with SCD. This chromatography technique is one of the important diagnostic tests used to detect Hb variants (Arishi et al., 2021). An electrical field is applied to aid the movement of electrically charged molecules. Various pH and mediums are used, either cellulose acetate electrophoreses at alkaline pH or citrate agar at acidic pH, which help identify hemoglobin variants.

Hemoglobin electrophoresis distinguishes persons who are homozygous for HbS from heterozygous. It confirms the diagnosis of SCD by showing a single band of HbS (in HbSS) or HbS with another mutant hemoglobin in compound heterozygotes (Arishi et al., 2021). If the electrophoresis results show only HbS with an HbF concentration below 30%, the diagnosis is sickle cell anemia for children with normocytic hemolytic anemia. However, if HbS and HbC are found almost equal amounts, the diagnosis is HbSC.

Click here to ORDER an A++ paper from our Verified MASTERS and DOCTORATE WRITERS DNP 810 Refer to the complex inheritance health issue identified in DQ 1:

The DNP-prepared nurse can apply the information on SCD screening by recommending the Hemoglobin electrophoresis test to newborns. The screening results can help the DNP identify the appropriate treatment interventions and provide health education to parents on how the child will be managed, thus reducing mortality rates (Brandow et al., 2022). The DNP can also use the test to detect the Hb variants present in the patients and use the results to make a diagnosis and develop treatment plans.   

References

Arishi, W. A., Alhadrami, H. A., & Zourob, M. (2021). Techniques for the detection of sickle cell disease: a review. Micromachines, 12(5), 519. . https://doi.org/10.3390/mi12050519

Brandow, A. M., & Liem, R. I. (2022). Advances in the diagnosis and treatment of sickle cell disease. Journal of hematology & oncology, 15(1), 20. https://doi.org/10.1186/s13045-022-01237-z

Sanyaolu, A., Agiri, E., Bertram, C., Brookes, L., Choudhury, J., Datt, D., Ibrahim, A., Maciejko, A., Mansfield, A., Nkrumah, J., & Williams, M. (2020). Current modalities of sickle cell disease management. Blood science (Baltimore, Md.), 2(4), 109–116. https://doi.org/10.1097/BS9.0000000000000056

This is an exceptional post about Down syndrome (DS). This condition is succinctly described and the diagnostics tests are clearly illustrated. As you indicated, incorporating a multidisciplinary team and parental awareness is crucial in this condition. However, parental involvement is critical from the moment the child is born with DS. Parents are advised to seek early intervention, which is a system of services created to assist toddlers and infants with disabilities and their families. This system is protected by federal law through the Individuals with Disabilities Education Act (IDEA) (Dragoo, 2019). The Act requires healthcare professionals to work with the family of the child living with a disability to create an Individualized Family Services Plan (IFSP). IFSP portrays the unique status of the child and the services needed to address those needs. It also illustrates the unique needs of the family to enable parents and other family members to determine how to help the child with DS (Russo, 2019). Parental education is also crucial in enabling the identification of specific health-related issues such as respiratory problems, visual issues, speech difficulty, hearing loss, gastrointestinal tract problems, and heart defects.

References

Dragoo, K. E. (2019). The Individuals with Disabilities Education Act (IDEA), Part C: Early Intervention for Infants and Toddlers with Disabilities. CRS Report R43631, Version 11. Updated. Congressional Research Service. https://eric.ed.gov/?id=ED597894

Russo, C. J. (2019). The rights to educational self-determination under the Individuals with Disabilities Education Act. International Journal of Inclusive Education, 23(5), 546-558. https://doi.org/10.1080/13603116.2019.1580926

My agreement resided with you when you wrote the screening results can help the DNP identify the appropriate treatment interventions and provide health education to parents on how the child will be managed, thus reducing mortality rates. Education paves a path that allows for child mortality to undergo reduction. Likewise, sickle cell anemia serves as a group among disorders of inheritance, namely sickle cell disease. Moreover, this specific condition inflicts a detrimental impact upon red blood cell shapes, which are responsible for servicing as oxygen carriers throughout the body, which proves itself of utmost importance for patients to remain educated when concerning their respective disease as well as the accompanying nature of their disease (Viola et al., 2021). To further demonstrate, the recognition of signs pertaining to a vaso-occlusive crisis and requesting assistance, treat all febrile illnesses promptly and identify environmental hazards that may precipitate a crisis (Viola et al., 2021). Individuals with sickle cell disease reside at a higher susceptibility when concerning both strokes as well as infections. Sickle cell disease can also be accountable for inflicting bodily organ damage, which can range from the joints, kidneys, as well as kidneys. Some people with sickle cell disease may develop neurocognitive deficits (Viola et al., 2021).

Reference

Viola, A., Porter, J., Shipman, J., Brooks, E., & Valrie, C. (2021). A scoping review of transition interventions for young adults with sickle cell disease. Pediatric blood & cancer, 68(9), e29135.

Unread

Down syndrome is a genetic disorder caused by the presence of all or portion of the third chromosome 21. Typically it is present with mild to moderate intellectual disability and growth retardation with characteristic facial features. There are different methods used for prenatal diagnosis based on soft markers like increased muchal fold thickness, no nasal bone and large ventricles. Rapid detection of trisomy 21 both during the fetal life and after birth. Non- invasive prenatal diagnostic methods which are being used for the diagnosis. It is based on the presence of fetal cells in the maternal blood and the presence of cell-free fetal DNA in the maternal serum. The rights and lives of people with a learning disability are always precarious; something highlighted once again during the Covid-19 pandemic (Lodge 2020).

Involving multidisciplinary team is important and parental education is needed. As a DNP learner prepared I should apply all the knowledge and information I’ve learned. Parents need to be aware and educated for the management of DS. A balanced diet, regular exercise and physical therapy needed for the optimum growth to improve their health. In the absence of screening, the number of live births of babies with Down syndrome would almost certainly have grown in line with the rise in average maternal age (de Graaf et al. 2020; Lou et al. 2018); although the knowledge that prenatal screening exists may well play a part in the choices women make about the timing of their pregnancies. A clear understanding of the impact of people with DS can be fully supported if family continues to support each other and do prenatal testing. Personal contact with DS and having positive attitude towards disability. The groups are concerned that the lives of people with Down syndrome and their families are inaccurately and negatively portrayed by health professionals whose own assumptions and values undermine the ability of women to make a fully informed choice (Enoch 2019). Struggling with down syndrome for a daughter or son is tough for each family.

References:

De Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in Europe. Eur J Hum Genet. 2020;31:1–9. 

Enoch N. The ups of down syndrome. Br J Midwifery. 2019;27(4):211–213. doi: 10.12968/bjom.2019.27.4.211.

Lodge K-M (2020) Covid-19 shows that the lives of people with a learning disability are still not treated as equal https://blogs.bmj.com/bmj/2020/09/01/covid-19-shows-that-the-lives-of-people-with-a-learning-disability-are-still-not-treated-as-equal/. Accessed 16 Mar 2021

My agreement resided in your statement when you wrote that parents need to be aware and educated about DS management. When caring for a child that is diagnosed with Down syndrome, the experience can exact a challenging experience. Moreover, this specific child care requires not only empathy as well as patience, but also so much more. Unfortunately, many parents and caregivers of children with chromosomal conditions are left wondering where they should start. One of the best things the parents can do is research the chromosomal condition as much as possible (Gumus & Yardimci, 2018). Researching down syndrome and staying informed can help them care for the child and provide a better quality of life. 

Furthermore, working with their doctor to create an appropriate birth plan is essential (Gumus & Yardimci, 2018). Excluding research, a presence of a majority of support groups exists – including both face-to-face experiences as well as virtually, which can greatly aid the parents on their journey in caring for a child with Down syndrome (Gumus & Yardimci, 2018). For the minority, this might signify admission within a church-based localized collective of support, whereas, for others, this range of care can potentially signify establishing connection alongside other parents of a child that’s also diagnosed with Down syndrome too. In addition, whatever the parents choose, joining a support group can help provide care for the child while also helping them cope with their day-to-day challenges (Gumus & Yardimci, 2018).Besides juggling work and all of the responsibilities that may come with their day-to-day schedule, caring for a special needs child can be even more demanding. Worse, it can be harder to find the time to meet their own needs when they are so busy caring for the rest of the family. Therefore, making time for self-care is one of the essential things the parents can do as someone caring for a child with Down syndrome (Gumus & Yardimci, 2018). 

Reference

GÜMÜŞ, M., & YARDIMCI, F. (2018). Health Care Needs of Children with Down Syndrome. Health Sciences Research in the Globalizing World, 185.

Parkinson’s disease, the most common movement disorder, is a progressive neurodegenerative disease clinically characterized by prominent motor symptoms, e.g., bradykinesia, rigidity, and tremor in addition to postural and gait disorders and, in some cases, levodopa-induced dyskinesia. The diagnosis of Parkinson’s disease  continues to be established only by the presence of cardinal motor features: hypokinesia, tremor and rigidity. Parkinson’s disease may be caused by a single pathogenic variant (monogenic). Well-established Parkinson’s disease genes include autosomal dominant forms (SNCA, LRRK2, and VPS35) and autosomal recessive forms (PRKN, PINK1 and DJ1). Moreover, atypical or complex parkinsonism may be due to mutations in genes such as ATP13A2, DCTN1, DNAJC6, FBXO7, PLA2G6, and SYNJ1. Genetic testing for the following genes GBA, PARK7, SNCA, LRRK2, parkin, and PINK1 but genetic testing for Parkinson disease has not been widely used in clinical practice.

The doctoral-prepared nurse can apply this information in practice by understanding the relationship of genetics and genomics to health, prevention, screening and treatment. Assist bedside nurses with the skills to gather family history, identify hereditary risk, and make appropriate referrals for genetic consultation and testing. During the genetic assessment process help patients understand test results, provide support, explore implications for family, and encourage compliance with screening and treatment recommendations.

Bonifati, V. (2021). Genetics of Parkinson’s disease and the role of genetic testing. Journal of the Neurological Sciences, 429(Supplement). https://doi-org.lopes.idm.oclc.org/10.1016/j.jns.2021.117907

Alcalay, R. N., Kehoe, C., Shorr, E., Battista, R., Hall, A., Simuni, T., Marder, K., Wills, A.-M., Naito, A., Beck, J. C., Schwarzschild, M. A., & Nance, M. (2020). Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists. Genetics in Medicine, 22(3), 574–580. https://doi-org.lopes.idm.oclc.org/10.1038/s41436-019-0684-x