Answer 2 for DNP 810 Identify a specific disease encountered in your clinical practice or personal life
Down Syndrome (DS) (also known as trisomy 21) is a genetic disorder at birth characterized by intellectual disabilities and growth delay. Down syndrome effects vary for each individual and can cause congenital heart disease, asthma, sleep apnea and Alzheimer’s, Celiac disease, seizures, childhood leukemia, and autism. DS is caused by the development of three chromosome 21 when the two copies fail to detach during the formation of a woman’s egg. This genetic disorder does not completely have a known cause and is noted to relate to a woman who is giving birth over the age of 35 (Gdsf, 2021).
Growing up with a brother who is DS, many of the healthcare professionals and our own family did not completely understand the cause and the non-disjunction of the chromosomes and how to knowingly treat him based on his developmental delays. My mother had him at the age of 46 therefore it was reported that the cause of his DS was related to maternal age. At the time of his birth and diagnosis, I was pursuing nursing in college and spent time studying the effects and any information I can about DS. Approximately 8 years later, a friend of mine also had given birth to a beautiful baby girl who was also diagnosed with DS. The stigma of DS being age-related was subsiding as she was in her 20’s when she gave birth.
The management of any disease that a person with DS has been treated individually and uses a multidisciplinary approach. Parents of a child with new diagnoses of DS require referrals for genetic testing, counseling, and education regarding potential diseases and DS management (Akhtar & Bokhary, 2021). DS children also undergo speech therapy as speech is often seen delayed. Expressive language sampling (ALS) has been used with DS children to review variables such as expressive language, syntactic maturity, the motivation to speak, articulation of speech, and difficulties in language planning (Thurman, et.al, 2021). A healthcare provider should review the needs of a DS patient with a family member as each reacts differently to treatment. I have learned specifics of what ensures my sibling is comfortable with care and what makes him uncomfortable by listening and managing his genetic disease process for 15 years now.
Akhtar, F., & Bokhari, S. R. (2021, December 12). Down syndrome – statpearls – NCBI bookshelf. National Library of Medicine. Retrieved June 14, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK526016/
Gdsf. (2021, October 13). FAQ and facts about down syndrome. Global Down Syndrome Foundation. Retrieved June 12, 2022, from https://www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/?gclid=EAIaIQobChMInICMzdmp-AIVMRh9Ch2XSApAEAAYAiAAEgIEyfD_BwE
Thurman, A. J., Edgin, J. O., Sherman, S. L., Sterling, A., McDuffie, A., Berry-Kravis, E., Hamilton, D., & Abbeduto, L. (2021). Spoken language outcome measures for treatment studies in Down syndrome: Feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling. Journal of Neurodevelopmental Disorders, 13(1). https://doi.org/10.1186/s11689-021-09361-6
