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New Patient

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New Patient

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    1. New Patient 41 y/o male presenting to establish care

    2. History? Hollywood resume Past medical Functional level Social structure

    3. Exam? HEENT Microcephaly, brachiocephaly, sloping forehead, up-slanting palpebral fissures, epicanthal folds, flat nasal bridge, protruding tongue Neck Cardiovascular Extremities Neurological

    4. Tests?

    5. Medical Management of Adults with Down Syndrome 8/20/07

    6. Goals and Objectives Review epidemiology and genetics of Down syndrome Discuss increased incidence of certain medical conditions Establish schedule for preventative care

    8. Origin 1866: John Langdon Down 1930s: Waardenberg & Bleyer 1959: Lejeune & Jacobs

    10. Epidemiology Incidence - 1 in 733 live births (NDSS) Prevalence - 350,000 in U.S. Most common chromosomal abnormality among live births Most frequent chromosomally-based form of mental retardation that can be detected by microscope

    11. Genetics Non-disjunction (95%) Robertsonian translocation (3-4%) Mosaicism (1%)

    12. Life Expectancy Increasing Mid-40’s Mid-50’s Mid-60’s

    13. Cardio Problems Congenital heart disease (50%) Atrioventricular septal defects Mitral valve prolapse (57%) Valvular regurgitation (17%)

    14. Audio Problems Hearing loss (70%) Testing q 2 years Obstructive sleep apnea (50%) CPAP?

    15. Ophtho Problems Cataracts (13%) Keratoconus (15%) Refractive error (43%) Testing q 2 years

    16. Endo Problems Diabetes mellitus No specific screening recommendations Thyroid disease

    17. Thyroid Disease Hypothyroidism (40%) Hyperthyroidism TSH annually

    18. Leukemia Transient myeloproliferative disorder Acute lymphoid leukemia Acute myeloid leukemia Acute megakaryocytic leukemia

    19. Vertebral Problems Atlantoaxial instability (14%) Gait disturbance, spasticity/weakness, abnormal reflexes Neurological exam annually Cervical arthritis Refusal to move

    20. Alzheimer’s Disease 30-39 - 10% 40-49 - 25% 50-59 - 55% 60-69 - 75%

    21. Other Celiac disease Periodontal disease Actinobacillus actinomycetemcomitans Dental visits q 6 months Psychiatric illness (30%) Depression, OCD, conduct disorder Testicular cancer

    22. Social Issues Speech/languange therapy Vocational training Parent support group Medical competency Estate planning, long-term supervision

    23. Summary Every year Routine health maintenance CV and Neuro exams Testicular exam TSH, CBC Dental Every 2 years Audiology Ophthalmology

    24. For More Information www.ndss.org

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