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New Patient

This article provides insights into managing an adult male with Down syndrome, covering history, examination findings, medical management, genetics, and common health issues. Learn about screening recommendations, life expectancy, and social support. Stay informed for optimized care.

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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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