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

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.