The Cribsiders S6 Ep126: Understanding the Extra Chromosome: Trisomy 21
Nov 20, 2024
Dr. Hannah Keppler, a pediatrician in the Bronx and co-director of the Family Weight Management Program, shares her expertise on managing patients with Down Syndrome. She discusses the multidisciplinary approach needed for initial evaluations of newborns with Trisomy 21. Listeners will learn about vital screening tests, the misconception around routine X-rays for atlantoaxial instability, and the importance of early interventions. The conversation also touches on addressing racial inequalities in healthcare access for children with developmental delays.
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Early Hematologic Testing
- Order a CBC within first 3 days to evaluate for transient abnormal myelopoiesis (TAM).
- Refer urgently to pediatric hematology if blasts are detected to manage leukemia risk early.
Developmental and Autism Screening
- Screen for developmental delays and autism between 18 and 24 months using standard tools.
- Refer to developmental behavioral pediatrics if autism is suspected for specialized evaluation.
Early Intervention Importance
- Connect children with Down syndrome to early intervention services from birth.
- Provide speech, occupational, and physical therapies tailored to their delays.