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American Academy of Pediatrics: Down Syndrome Health Care Guidelines

American Academy of Pediatrics: Down Syndrome Health Care Guidelines. by: Nick A. Jernigan, M.D. Objectives :. Develop awareness of Down Syndrome guidelines Understand basic categories of screening Know where to look to get the guidelines.

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American Academy of Pediatrics: Down Syndrome Health Care Guidelines

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  1. American Academy of Pediatrics: Down Syndrome Health Care Guidelines by: Nick A. Jernigan, M.D.

  2. Objectives: • Develop awareness of Down Syndrome guidelines • Understand basic categories of screening • Know where to look to get the guidelines http://aappolicy.aappublications.org/cgi/reprint/pediatrics;107/2/442

  3. Birth to 1 month • First Things First... • Confirm the diagnosis with a karyotype • Discuss and Review: • Hypotonia • Facial Appearance

  4. Birth to 1 Month: Evaluations Feeding Strabismus, Cataracts, Nystagmus Congenital Hearing Loss Heart Defects (50% risk) Duodenal Atresia Constipation - increased risk of Hirschsprung Leukemia Congenital Hypothyroidism Respiratory Tract Infections

  5. Anticipatory Guidance • Susceptibility of URI • ECI • Parental Support Groups • DS Support Groups Strengths of the Child Positive Family Experiences Methods of Coping Recurrence Risk

  6. 1 month to 1 year • Physical Exam / Laboratory Studies • Risk of Serious OM • Strabismus, Cataracts, and Nystagmus by 6 Months • Pneumovax • Newborn thyroid function screen - will repeat at 6 and 12 months, then annually

  7. Anticipatory Guidance Review growth and development with DS curves DS Support Groups Assess familial relationships ECI Recurrence Risk

  8. Growth Charts

  9. 1 year to 5 years • Good Ol’ H&P • Risk of OM and Hearing Loss (50-75% between 3-5 yrs of age) • Check audiogram every 6 months until 3 years if tympanic membranes are not visible • Obtain x-rays between 3-5 years of age to evaluate atlantoaxial instability • Thyroid and vision screening yearly • Discuss sleep apnea, believed to be as high as 50% of children with Down’s

  10. Anticipatory Guidance • ECI • PT, OT, Speech, Preschool, School Placement, Performance • Discuss: • Behavior, Discipline, Sibling Adjustment, Socialization, Recreation, Diet, and Physical Activity Never Stop Discussing: Strengths of Child Positive Family Experiences Methods of Coping Recurrence Risk

  11. 5 to 13 years • H&P • Audiologic and vision screening annually • Thyroid screening annually • Discuss dermatologic complications- especially dry skin • Discuss sleep apnea

  12. Anticipatory Guidance • School Placement and Developmental Intervention • Socialization, Family Status, Financial and Guardian Relationships • Sense of Responsibility Psychosexual Development Menstrual Hygiene Contraception Females can become pregnant Males are usually infertile.

  13. 13 to 21years • History & Physical • Audiologic and vision screening annually • Thyroid screen and CBC annually • Discuss dermatologic complications • Discuss sleep apnea

  14. Anticipatory Guidance Sexuality and Socialization Contraception Group Homes and Independent Living Opportunities Financial and Guardian Relationships • Transition of Care • Vocational Training

  15. Any Questions? http://aappolicy.aappublications.org/cgi/reprint/pediatrics;107/2/442

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