Revised March 2, 2006/SSC/ERH

1. Down Syndrome / Trisomy 21Presented by: APS HealthcareSouthwestern PA Health Care Quality Unit(HCQU) Revised March 2, 2006/SSC/ERH

2. Disclaimer Information or education provided by the HCQU is not intended to replace medical advice from the consumer’s personal care physician, existing facility policy or federal, state and local regulations/codes within the agency jurisdiction. The information provided is not all inclusive of the topic presented. Certificates for training hours will only be awarded to those who attend a training in its entirety. Attendees are responsible for submitting paperwork to their respective agencies.

3. Note of Clarification While mental retardation (MR) is still recognized as a clinical diagnosis, in an effort to support the work of self-advocates, the APS SW PA HCQU will be using the terms intellectual and/or developmental disability (I/DD) to replace mental retardation (MR) when feasible.

4. Objectives • The Participant will be able to: • Define Down Syndrome/Trisomy 21 • Describe the chromosomal abnormality leading to Down Syndrome/Trisomy 21 • Discuss prenatal screening and diagnostic testing for Down Syndrome/Trisomy 21 • Describe the relationship of maternal age to the risk of Down Syndrome/Trisomy 21 • Describe physical characteristics of Down Syndrome/Trisomy 21 • List medical conditions associated with Down Syndrome/Trisomy 21 • Recognize life expectancy and aging issues associated with Down Syndrome/Trisomy 21

5. What Is Down Syndrome/Trisomy 21? • Genetic condition • Most common genetic cause of mild to moderate mental retardation • Caused by a chromosomal abnormality • Chromosome 21 • Error in cellular division • Delays in physical/mental development

6. Brief History • 1866 • “Father of Down Syndrome” • Dr. John Langdon Down • Identified condition clinically • 1959 • Dr. Jerome Lejeune • Identified as chromosomal abnormality

7. Occurrence of Down Syndrome/Trisomy 21 • 5,000 children born in U.S. every year • 1 in 800-1000 live births • > 350,000 in U.S. today • Usually only occurs once in a family • 1 in 100 (trisomy 21 & mosaic trisomy 21) • Higher if translocation trisomy 21 (2%-100%) • No links to behavior or environment

8. Relationship of Down Syndrome/Trisomy 21 to Maternal Age • Women age 35 and older have a significantly increased risk of having a child with Down Syndrome/Trisomy 21 • 25% of babies with Down Syndrome/Trisomy 21 born to women age 35 and older • 9% of total pregnancies occur in women age 35 and older

9. Relationship of Down Syndrome/Trisomy 21 to Maternal Age Maternal Age Incidence <30 <1 in 1000 35 1 in 400 37 1 in 230 39 1 in 135 40 1 in 105 42 1 in 60 44 1 in 35 46 1 in 20 48 1 in 16 49 1 in 12 Source: National Institute of Child Health and Human Development

10. Types of Down Syndrome • Trisomy 21 • Mosaic Trisomy 21 • Translocation Trisomy 21

11. Trisomy 21 • Most common type: 92% of cases • Originates in the sperm or egg • Three chromosome 21 are present in all cells

12. Mosaic Trisomy 21 • Occurs in 2-4% of cases • Extra chromosome 21 present in some, but not all cells • Occurs in embryo cellular development • Physical disabilities vary depending on number of cells with the extra chromosome 21

13. Translocation Trisomy 21 • Occurs in 3-4% of cases • Part of chromosome 21 breaks off and attaches to another chromosome • Occurs before or at conception • Parent may be carrier

14. Prenatal Screening for Down Syndrome/Trisomy 21 • Maternal serum alpha feto-protein (MSAFP) • Human chorionic gonadotropin (hCG) • Unconjugated estriol (uE3)

15. Diagnostic Testing for Down Syndrome/Trisomy 21 • Amniocentesis • Chorionic villus sampling (CVS) • Percutaneous umbilical blood sampling (PUBS)

16. Newborn Diagnosis of Down Syndrome/Trisomy 21 • Chromosomal karyotype • Physical features

17. Characteristics of Down Syndrome/Trisomy 21 • Flat facial profile • Upward slant of eyes • Epicanthal folds • Brushfield spots • Abnormally shaped ears • Enlargement of tongue in relation to mouth size

18. Characteristics of Down Syndrome/Trisomy 21 • Low muscle tone • Hyperflexibility • Deep crease across palm of hand • Excessive space between large and second toe • Mild to moderate mental retardation

19. Associated Medical Risks • Immune • Cardiac • Pulmonary • Central Nervous • Vision • Hearing • Endocrine • Gastrointestinal • Musculoskeletal • Skin • Blood • Genitourinary • Dental • Obesity • Sleep Apnea • Mental Health

20. Associated Medical Risks • Immune System • Deficiency • Chromosome 21 linked to immune system • Higher mortality rate from infectious disease

21. Associated Medical Risks • Cardiac System • Up to 50% have congenital heart defects • Atrioventricular septal defects • Endocardial cushion defects • Tetrology of Fallot • Valvular problems in adults

22. Associated Medical Risks • Pulmonary System • Pulmonary hypertension • Frequent respiratory infections • High rate of pneumonia

23. Associated Medical Risks • Central Nervous System • Seizures • Alzheimer’s Disease

24. Associated Medical Risks • Vision • Refractive errors • Strabismus • Cataracts • Frequent conjunctivitis

25. Associated Medical Risks • Hearing • Impairment • Wax buildup • Fluid buildup • Frequent otitis media

26. Associated Medical Risks • Endocrine System • Hypothyroidism • Hyperthyroidism • Diabetes Mellitus

27. Associated Medical Risks • Gastrointestinal System • Constipation • Obstructions • Malabsorption syndromes • Celiac disease

28. Associated Medical Risks • Musculoskeletal System • Hypotonia • Ligamentous laxity • Hyperflexibility • Atlantoaxial instability • Premature DJD • Patellar instability, flat feet, knock knee • Bunions

29. Associated Medical Risks • Skin • Dryness • Seborrhea • Blood • Leukemia

30. Associated Medical Risks • Genitourinary System • Frequent UTI’s • Premature menopause • Dysmenorrhea • Male infertility

31. Associated Medical Risks • Dental • Delayed tooth eruption • Diminished development/absent teeth • Malocclusion • Bruxism • Periodontal disease

32. Associated Medical Risks • Obesity • Sleep Apnea • Mental Health Issues • Depression • OCD • Autistic Spectrum Disorders

33. Sexuality and Down Syndrome/Trisomy 21 • Hormonal changes during adolescence • Have intimacy needs and sexual feelings • Sexual education important

34. Aging and Down Syndrome/Trisomy 21 • Increased life expectancy • Increased involvement with family and community • Premature aging

35. Down Syndrome/Trisomy 21 Research • Cause • Identify genes and effects when over expressed • Effective interventions and treatment strategies

36. “ I have Down Syndrome. It’s not a disease. There is no cure. I was born that way. I don’t like it, but I’ve learnt to cope with it.So have my parents. I’m not a disabled person.I’m a person with a disability. I’m a person first.” Ruth Cromer, 1999

37. Everyday Lives • People with Developmental Disabilities want to have a life that is typical of the general population.

38. Everyday Lives information by OMR, Contract Consultants, and The PA Self Determination Consumer & Family Group An Everyday Life • Choice • Control • Quality • Stability • Safety • Individuality • Relationships • Freedom • Success • Community • Accountability • Mentoring • Collaboration

39. ”I think we should end this by stating, that we should never call us Down Syndrome. We should call each other Up syndrome because Up syndrome would help each other out, being involved in communities because it’s part of being Up syndrome.” • Mitchell Levitz, An individual with Down Syndrome

40. References • Alzheimer’s Disease: Understanding How Down Syndrome Increases Risk. Retrieved January 8, 2005, from http://mywebmd.com/content/article/71/81383. • Facts About Down Syndrome. Retrieved February 3, 2005, from http://www.nichd.nih.gov/publications/pubs/downsyndrome/down.htm. • Cohen, W., Ed. (1996). Healthcare guidelines for Individuals with Down Syndrome. Down Syndrome Quarterly, 1,2. Retrieved December 21, 2004, from http://www.denison.edu/collaborations/dsq/health96.html.

41. References • Leshin, L. Atlantoaxial Instability in Down Syndrome. Retrieved December 21, 2004, from http://www.ds-health.com/aai.htm. • Background Information. Retrieved December 21, 2004, from http://www.nas.com/downsyn/faql.html. • When Was Down Syndrome Discovered. Retrieved December 21, 2004, from http://www.ndss.org/content.cfm?fuseaction=InfoRes.Generalarticle+article=196.

42. References • Questions &Answers About Down Syndrome. Retrieved December 21, 2004, from http://www.ndss.org/content.cfm?fuseaction=InfoRes.Generalarticle+article=194. • What Causes Down Syndrome. Retrieved December 21, 2004 from http://www.ndss.org/content.cfm?fuseaction=InfoRes.Generalarticle+article=20. • How is Down Syndrome Diagnosed in a Newborn. Retrieved December 21, 2004, from http://www.ndss.org/content.cfm?fuseaction=InfoRes.Generalarticle+article=22.

43. References • Down Syndrome Health Issues Throughout the Lifespan. (2003). New York City Department of Health and Mental Hygiene, 22, 4, 5. • Are Any Prenatal Tests Available to Detect Down Syndrome. Retrieved December 12, 2004, from http://www/ndss.org/content.cfm?fuseaction=InfoRes.Generalarticle+article=30. • Shield, J. (2001). Type 1 Diabetes and Other Autoimmune Disorders in Down’s Syndrome. Retrieved February 27, 2004, from http://www.dsmig.org_uk/library/articles/transcript-shield.pdf.

44. References • Contract Consultants, Inc. & The PA Self Determination Consumer & Family Group. What do People Want? http://www.everydaylives.net/edl-values.asp • PA Dept. of Public Welfare. Everyday Lives: Making it Happen. (2001)

45. To register for future trainings,orfor more information on this or any other physical or behavioral health topic, please visit our website at www.hcqu.apshealthcare.com

47. EvaluationPlease take a few moments to complete the evaluation form found in the back of your packets.Thank You!

48. Test ReviewThere will be a test review after all tests have beencompleted and turned in to the Instructor.