Contributor: Alicia Oberle, MD

Educational Pearls:

• Down Syndrome with Trisomy 21 have three copies of chromosome 21
• Current birth rates are around 1 in 700 births
• Average life span 25 years in 1980, today the average life span is 60 years of age
• Patients with Down syndrome require additional therapies in the first 3 years due to developmental delays
• They also have increased risk for childhood leukemias, seizures, hypothyroidism, celiac disease, and early-onset Alzheimers
• Half have a cardiac defect requiring surgery at birth

References

Tsou AY, Bulova P, Capone G, et al. Medical Care of Adults With Down Syndrome: A Clinical Guideline. JAMA. 2020;324(15):1543–1556. doi:10.1001/jama.2020.17024

Summarized by John Spartz, MS3 | Edited by Erik Verzemnieks, MD

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