American Academy of Pediatrics:

Down Syndrome

Health Care Guidelines

American Academy of Pediatrics:

Down Syndrome

Health Care Guidelines

by: Nick A. Jernigan, M.D.

ObjectivesObjectives:

• Develop awareness of Down Syndrome Develop awareness of Down Syndrome guidelinesguidelines

• Understand basic categories of screeningUnderstand basic categories of screening

• Know where to look to get the guidelinesKnow where to look to get the guidelines

http://aappolicy.aappublications.org/cgi/reprint/pediatrics;107/2/442

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 GuidanceReview 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?Any Questions?

http://aappolicy.aappublications.org/cgi/reprint/pediatrics;107/2/442