1. Alzheimer’s Disease Tessa Dillon Nova Southeastern University Clinical Genetics Teri Doolittle, PA-C, MHP, DHSc August 3, 2008

2. Incidence Alzheimer’s Disease (AD) is the most common cause of dementia in older adults About 25% of AD cases are hereditary Having a 1 st degree relative with AD = 20% to 25% risk of developing AD Bird, 208, p.3; National Institute of Health [NIH], 2006

3. At- Risk Population Early onset AD = 1%-3% of all cases Early onset Familial AD accounts for 13% of cases Down’s Syndrome in 40’s Results from Trisomy 21 60% of patients with dementia or AD live in the Western World Bird, 208, p.3; Blennow, deLeon, & Zetterburg, 2006; NIH, 2006

4. Inheritance Patterns Early onset familial AD appears to be Autosomal Dominant Late onset familial AD involves multiple susceptibility genes Families with multiple affected members higher incidence Sporadic inheritance caused by combination of aging, genetic predisposition & exposure to environmental agents Bird, 2008, p.5; Blennow et al., 2006

5. Prognosis Progressive disease No cure is Available Treatment is supportive Includes management of symptoms Pharmacogenetics shows promise in tailoring drug effectiveness Bird, 2008; Elder, 2007

6. Course of the Disease Begins with subtle failure of memory Progress to confusion poor judgment language disturbance Advanced cases result in Agitation Withdrawal Hallucinations Bird, 2008; Blennow, 2006; NIH, 2006

7. Interdisciplinary Care Factors Nurses provide referral to genetic counselor Physician & Pharmacologist optimize treatment of symptoms Psychiatrist & Psychologist for mental & behavioral support Palliative care from a hospice provider Provides needed care for the patient and caregiver in the late stages of AD Smith & Keene, 2007

8. Case Scenario Mr. Y a 45-year old computer engineer Manager of software development unit at a large company Well respected in community Married with one female child age 22 No significant medical history, receives regular annual physicals Exercises Daily with 30 minute Jog Burke, Fryer-Edwards, & Pinsky, 2001

9. Case Scenario continued Mr. Y has been under stress at work Goes on vacation to New York Calls his daughter from Union Square unable to recall what hotel he is staying in He asks his daughter for the name of the hotel and what to do next His boss also describes his work as unsatisfactory States he is making faulty management decisions Burke et al., 2001

10. Early Onset Alzheimer’s Unaffected individual Onset AD age 50 Age 72 healthy Age 59 severe mental problems Age 90 healthy Age 48 memory problems Three Generation Family History Age 45 New onset confusion ? Burke et al., 2001

11. Punnett Square A a a A = Alzheimer’s Trait a = normal memory a Based upon the family history the Punnett square reveals that there is 50% chance of each child developing Early onset AD Aaaa Aaaa

12. Role of Nurse in Care Assessment Provide supportive care Explain unfamiliar terms (tests & genetics) Serve as mediator for others involved in care Early Case Findings Screen family for possible genetic counseling Refer to community support groups

13. Interventions Assistance with rehabilitative efforts Consult pharmacologist for medication education Refer to hospice when appropriate

14. Question One Pharmacogenetics offers promise to patients who have AD by offering them this? And the ANSWER is: Customized treatment plan and new medications to slow the symptoms associated with Alzheimer’s disease.

15. Question Two If two or more direct family members have AD what are the chances that you will get the disease? And the answer is: AD is generally Autosomal Dominant In early onset there is a 50% chance of inheriting the disease from a direct family member In late onset, the risk is less because of incomplete penetrance and multiple gene mutations.

16. References Bird, T. (2007, October). Alzheimer disease overview in gene reviews. Retrieved August 3, 2008, from http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=g ene&part=alzheimer Blennow, K., deLeon, M., & Zetterberg, H. (2006). Alzheimer’s disease [Electronic version]. The Lancet 368, 387-403.

17. References Continued Burke, W., Fryer-Edwards, K., & Pinsky, L. (Eds.). (2001, September). Genetics in primary care (GPC) training program curriculum materials. Retrieved July 29, 2008, from Nova Southeastern University WebCT Elder, B. (2007). The genetics of chronic disease: A nursing perspective [Electronic version]. The Kansas Nurse 82(10), 3-5.

18. References Continued National Institute of Health. (2006, October). Genetics in primary medicine: Alzheimer disease ApoE genotyping at-a- glance. Retrieved August 3, 2008, from http://www.genetests.org/servlet/access?id=8888892&key=S5VnWgvs6gLfL &fcn=y&fw=EEG3&filename=/tools/teaching/ataglance/alzheimer.html Smith, C. & Keene, S. (2007). Hospice care for alzheimer's disease: Caring for the patient, family, and caregivers. The Internet Journal of Geriatrics and Gerontology 3(2). Retrieved August 4, 2008, from http://www.ispub.com/ostia/index.php?xmlFilePath=journals/ijgg/vol3n2/hospice.xml