Down Syndrome (Mongolism)

1. common findings

2. treatment will be based on symptoms

3. intelligent quotients (IQs) between 25-70 (mental challenges)

4. facial appearance: low nasal bridge epicanthal folds protruding tongue flat and low-set ears

5. poor muscle tone and short stature

6. increased risk of congenital heart disease, respiratory infections, and leukemia

7. diagnostic tests - recommended for pregnant women at ages of 30-35 years old

8. At 8 to 12 weeks - Chorionic villus sampling

9. At 15 to 20 weeks - Amniocentesis

10. After 20 weeks - Percutaneous umbilical blood sampling

11. apart from physicians, 1) special education 2) speech therapists 3) occupational therapists 4) physical therapy 5) social worker

12. References Mundakel (2017). Down Syndrome. MedScape. Retrieved from https://emedicine.medscape.com/article/943216-overview McCance, K.L., & Huether, S.E. (2014). Pathophysiology: The biologic basis for disease in adults and children, seventh edition. St. Louis, MO: Mosby Elsevier.

13. pathophysiology/etiology

14. causative factors/risk factors

15. 1) nondisjunction causes aneuploidy when chromosomes or sister chromatids fail to divide during meiosis I (which occurs more frequently) or in meiosis II. This occurs during the formation of the egg and the sperm thus all other cells will have an extra chromosome.

16. studies suggest that gene dup21(q22.1-22.2) causes Down syndrome (Mundakel, 2017)

17. risks increases with maternal age, specifics are known as to why.

18. caused by 3 cytogenic variants 1) three copies of chromosome 21 (occurs 95% 0f the time) 2) chromosomal translocation of the critical causative region 3) mosaicism

19. 2) during meiosis when genetic material from chromosome 21 is being copied and becomes attached to an unintended chromosome

20. 3) a postzygotic event where a trisomic zygote with mitotic loss of one chromosome during cell division - in mosaicism, most cells have the abnormal numbers of chromosome 21 and some are normal

21. in cases of chromosomal translocation, a mother may not show any symptoms but when passed onto a child the defective chromosome will replicate and thus show more prominent signs and symptoms.