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

Objectives Objectives: Develop awareness of Down Syndrome guidelinesDevelop awareness of Down Syndrome guidelines Understand basic categories of screeningUnderstand basic categories of screening Know where to look to get the guidelinesKnow where to look to get the guidelines

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

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

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

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

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

Growth Charts

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

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

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

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

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

Any Questions?