More than an extra chromosome: Multiple diagnoses in patients with Down syndrome and severe neurological burden

September 17, 2024

BACKGROUND
Individuals with Down syndrome (DS) can exhibit a wide spectrum of clinical features with varying degrees of severity.

  • The prevalence of seizures is higher in this population compared to the general population
    • 8-26% of patients with DS have seizures
  • Congenital heart disease (CHD) is the most common cardiovascular condition in individuals with DS
    • ~ 50% of infants with DS have CHD

The possibility of a dual diagnosis should be explored when the phenotype is more severe than anticipated for DS.