Down’s Syndrome Considerations

Diagnostic Speed Bump

During the course of a shift in the Emergency Department, I occasionally need to remind myself to rethink my diagnosis.  Fighting diagnostic momentum can be difficult.  That is why we look thoroughly for “Red Flags” (like we’ve talked about with Inflammatory Bowel Disease).  One condition that always makes me Slow Down my diagnostic momentum is Down’s Syndrome. Most often the significant conditions that are associated with Down’s Syndrome are detected early in infancy, but given the broad variance that exists within the phenotype, these important conditions may not present until later in life.

Conditions typically detected by Primary MD

These conditions occur so commonly in association with Down’s Syndrome that they are most often screened for and considered often.

  1. Congenital Heart Disease

      1. ~50% of children with Down’s Syndrome are born with CHD.
      2. ASD (~45%) and VSD (~35%) are the most common.
      3. Often detected in neonatal period as screening Echo is recommended given high prevalence.
  2. HEENT Disorders
      1. Ophthalmological disease
        1. Congenital cataracts and glaucoma are often screened for.
        2. Risk increases with advancing age.
      2. Middle ear dysfunction
        1. 38-78% of patients have hearing loss.
        2. Often require aggressive monitoring and therapy for chronic otitis with effusion.
  3. Hypothyroidism
  4. Celiac Disease

Conditions that require our vigilance!

These conditions are known to be associated with Down’s Syndrome, but require everyone’s vigilance and may not become apparent until presenting to the Emergency Department.

  1. Seizures

      1. 8% develop Seizure Disorder
      2. 40% of them develop Seizure disorder prior to 1 year of age.
  2. Arthritis

      1. Develops in 1-2% of children and adolescents with Down’s Syndrome.
      2. Associated with joint subluxations and dislocations.
  3. Atlantoaxial Subluxation

      1. Excessive mobility of the C1 and C2 articulation.
      2. An atlanto-dens space of more than 4.5 mm is determined to be subluxation with or without symptoms.
      3. Many times are asymptomatic, but mild symptoms may be overlooked, leading to a delayed diagnosis.
      4. 2% develop signs of spinal cord compression.
      5. Need to consider this if child complains of neck pain or is noted to have decreased mobility.
      6. Also need to keep in mind if you need to intubate a child with Down’s Syndrome!
  4. Hematologic Disorders

      1. Pt’s with Down’s Syndrome are more likely than any other children to have hematologic disorders.
      2. Transient Myeloproliferative Disorder
        1. Seen in ~10% of neonates with Down’s Syndrome.
        2. Form of “self-limited” leukemia that regresses by age 2-3 months.
        3. Management is conservative.
        4. Some will later develop other myeloproliferative disorder.
      3. Leukemias
        1. 1 in 300 children with Down’s Syndrome develop Acute Lymphoblastic Leukemia.
  5. Diabetes Mellitus

      1. Develops in 1%.
      2. Keep this high on your DDx when assessing nonspecific complaints and/or vomiting.
  6. Relative Immunodeficiency

      1. see prior Morsel
      2. Anatomic and immunologic factors place children with Down’s Syndrome at greater risk for infections.
  7. Intestinal Obstruction

      1. Children with Down’s Syndrome are at risk for functional as well as anatomic intestinal problems!
      2. Can present early on and have severe symptoms, but may have anatomic anomalies that present with more minor symptoms and be overlooked until later in life.
      3. While children with Down’s Syndrome get constipation and viral gastroenteritis like other children, make sure you Slow Down to consider these possibilities:
        1. Small Bowel Obstruction
          1. There is a well known high incidence of Duodenal obstruction associated with Down’s Syndrome.
          2. Duodenal stenois, atresia, and annular pancreas often result in symptoms during neonatal period.
          3. Symptoms may be so mild, though, that the patient has only occasional vomiting, intermittent abdominal pain, or poor weight gain over several months.
          4. Plain abdominal obstruction x-rays can be helpful when considering this potential issue.
        2. Hirschsprung’s Disease (see prior Morsel)
          1. Found in ~ 2% of children with Down’s Syndrome.
          2. May present early on with delayed passage of meconium, but may also be more subtle.
          3. Should be considered in child with “chronic constipation” that persists despite simple laxatives.



Roizen NJ, Patterson D. Down’s Syndrome. The Lancet. 2003; 361: 1281-1289.

Smith GV, Teele RL. Delayed Diagnosis of Duodenal Obstruction in Down Syndrome. AJR. 1980; 134: 937-940.



Sean M. Fox
Sean M. Fox

I enjoy taking care of patients and I finding it endlessly rewarding to help train others to do the same. I trained at the Combined Emergency Medicine and Pediatrics residency program at University of Maryland, where I had the tremendous fortune of learning from world renowned educators and clinicians. Now I have the unbelievable honor of working with an unbelievably gifted group of practitioners at Carolinas Medical Center. I strive every day to inspire my residents as much as they inspire me.

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  1. Thank you for taking the time to build this great site! Much appreciated from this paramedic in Texas!

    • Kim, I greatly appreciate your gratitude! Let me know if there are any topics/questions you’d like me to address. Have a wonderful day!

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