Down Syndrome Annaleise Warner Kristina Palmer Nickesha Wellin Emily Solomon ECPI University NUR:221 Pathophysiology Ms. Mina 3/12/2022 Down Syndrome is a genetic disorder that affects chromosome 21 in the human genome. Trisomy 21 is an alteration where there are three copies of chromosome 21 instead of two (2). A new chromosome is produced when a gamete with two copies of chromosome 21 undergoes fertilization and cell division. It wasn't until 1959 that Down Syndrome was recognized as one of the most common genetic conditions, affecting approximately 1 in 800 to 1,000 babies of both sexes (Braun & Anderson, 2016). Screening for Down syndrome in the first trimester can be accomplished by looking for increased nuchal translucency (NT) or thickness of the nape of the neck, a common finding in fetuses with chromosomal abnormalities. Evaluation of NT uses ultrasound to measure a fluid-filled sac at the back of the fetus’ neck during early pregnancy. The best time for NT testing is between 10 and 14 weeks (Braun & Anderson, 2016). Ultrasound can be used to detect anatomic anomalies that are indicative of Down syndrome. Ultrasound is able to detect the following physical characteristics: short femur, short humerus, echogenic bowel, echogenic cardiac foci, hydronephrosis and other major anatomic defects. After birth, a full head-to-toe assessment may reveal growth deficit, slanted eyes, epicanthal folds, and Bushfield spots. Mental retardation, dysplastic ears, protruding, big, wrinkled tongue, short board hands with simian crease along with wide gap between the 1st and 2nd toes. Other underlying issues that may surface with an individual with down syndrome would include congenital heart disease, megacolon, and acute lymphoblastic leukemia. Women whose age exceeds 35 are at an increased risk of having a baby with down syndrome, a couple who have had a child born with the disorder is at high risk of having another baby with the condition and should seek genetic counselling. Down syndrome is more prominent in Mexican Americans, intermediate for African Americans, and lowest for non-Hispanic Whites. According to the CDC, the risk of Down syndrome increases with age, from about 1 in 1,250 in a woman at age 25, to 1 in 1,000 by age 30, 1 in 400 by age 35, and 1 in 100 by age 40 (CDC, 2021). Study indicates that Down syndrome is more common among boys than girls, and Hispanic children are more likely to be born with the condition. With age, however, the number of these children tends to level off with that of white children. Black children are less likely to have Down syndrome (Diamet, 2015). Down Syndrome is a birth disorder; Balanced translocation in a parent is the only inheritable form of trisomy. Caucasian women are at a grerater risk of birthing babies with this defect. Children and adult with down syndrome face multiple medical problems and most times experience mental health problems at a higher frequency. Down syndrome patients may portray neuropsychological problems characterized by progressive loss of cognitive skills and generalize anxiety. Limitation in language and communication may also be seen in young and early school age children. Cognitive and non-verbal problem solving may occur; being disruptive, impulsive, inattentive, hyperactive, and chronic sleep difficulties (Munir, 2019). Patient education is of utmost importance, parent/guardian/patients should be cognizant that the patient may struggle with speech, learning, mobility, and self-care needs. Guardians should be introduced to groups and resources which will foster better understanding and better caring for their loved ones. Safety is very important and should always be at the forefront when providing care. Anything that need to be thought to a person with down syndrome should be broken down and made simpler. Socializing can be difficult; however, role-play and positive reinforcement can be helpful, model socially positive behavior as the caregiver and gradually expose the patient to strangers as this will help with self-esteem (Madick, 2022). Having the patient involve on programs will help to enhance social interactions. A picture board may be of assistance in helping the patient express themselves. Assistance should be rendered with ADL care as cognitive impairment may hinder their ability to carry out these tasks. The importance of recreational activities cannot be overstated, these activities help with muscle tone, balance, and coordination, as well as weight management. Patients is key in helping these patients attain quality of life. (Madick, 2022) Down syndrome facilitators especially those of physical activities would include opportunity for social interaction with peers, a positive role model to the family, programs that are accessible and structured and are easy to adapt and persons with down syndrome who is determined to succeed and is physically skilled. Some possible barriers would include characteristics commonly associated with down syndrome such as congenital heart defects, obesity, hypotonia, and communication impairment. lack of accessible programs would be a major barrier along with reduced physical or behavioral skills (Barr & Shield, 2011). References Barr, M., & Shield, N. (2011). Oral presentation abstracts - 2011 - wiley online library. https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1365-2788.2011.01474_2.x Braun , C. A., & Anderson, C. M. (2016). Vitalsource Bookshelf Online. Retrieved March 8, 2022, https://ecpi.vitalsource.com/reader/books/9781496335876/epubcfi/6/32[%3Bvnd.vst.idref %3Ditem16]!/4/572/3:314[is%20%2Cabl] Centers for Disease Control and Prevention. (2021, April 6). Facts about down syndrome. Centers for Disease Control and Prevention. Retrieved March 8, 2022, from https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html Diamet, M. (2015, August 27). Down syndrome births jump 30 percent. Disability Scoop. Retrieved March 8, 2022, from https://www.disabilityscoop.com/2009/11/30/downsyndromeprevalence/6320/#:~:text=Down%20syndrome%20appears%20to%20be,likely% 20to%20have%20Down%20syndrome. Madick, K. (2022). Care of the patient with down syndrome. CEUfast. Retrieved March 8, 2022, from https://ceufast.com/course/caring-for-down-syndrome-patients Munir, K. (2019). Mental health issues & down syndrome. NDSS. Retrieved March 8, 2022, from https://www.ndss.org/resources/mental-health-issuessyndrome/#:~:text=The%20most%20common%20mental%20health,progressive%20loss% 20of%20cognitive%20skills.
