What thyroid monitoring is required in Down syndrome?

TSH at birth (NBS), 6 months, then annually; hypothyroidism in 20-30% of adults; average onset in early adulthood; autoimmune thyroiditis (Hashimoto) most common; screening essential as cognitive decline may be misattributed to Alzheimer.

When does atlantoaxial instability screening occur?

Cervical X-ray (flexion-extension) before participation in contact sports or procedures requiring neck flexion; clinical neurological exam annually from age 5; surgical stabilization if atlantodental interval >5 mm with neurological signs.

What leukemia risk does Down syndrome carry?

Transient myeloproliferative disorder (TMD) in 4-10% neonates (usually resolves); JMML risk 500x higher; ALL risk 20x higher (peak age 2-7); DS-ALL has favorable prognosis; AMKL (megakaryoblastic) 500x higher with GATA1 mutations.

When does Alzheimer dementia onset in Down syndrome?

Amyloid plaques from trisomy 21 APP gene (chromosome 21) overexpression; dementia onset average age 55 (range 40-70); by age 65, >90% have clinical dementia; baseline cognitive testing age 30-35 for future comparison; donepezil trials ongoing.

What cardiac monitoring follows initial CHD repair in DS?

CHD in 40-50% (AVSD 40%, VSD, ASD); post-repair: annual cardiology until cleared; AVSD recurrent shunts; adults: echocardiogram every 5 years; pulmonary hypertension surveillance essential given baseline low pulmonary vascular resistance.

Down Syndrome Age-Specific Health Surveillance Calculator

Generates age-specific Down syndrome health surveillance checklist covering cardiac monitoring, thyroid function, atlantoaxial instability screening, hearing/vision, Alzheimer dementia onset, and leukemia risk by age.

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Frequently Asked Questions

What thyroid monitoring is required in Down syndrome?

When does atlantoaxial instability screening occur?

What leukemia risk does Down syndrome carry?

When does Alzheimer dementia onset in Down syndrome?

What cardiac monitoring follows initial CHD repair in DS?