Question 22

You are called to the children’s ward to review a 6-year-old boy with Trisomy 21/Down’s Syndrome (DS). He has been diagnosed with pneumonia. He is severely hypoxemic despite high flow nasal O2.

Describe the important features of Down’s Syndrome and outline the impact they may have on his management.
 

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College answer

Not available.

Discussion

To scale new heights of grammar pedantry, the author could breed division by pointing out that it's Down syndrome, not Down's syndrome, but even professional and charity organisations seem to do this apostrophe thing, and so anyway: 

Airway features: 

  • Increased risk from sedation due to a labile upper airway with weaker muscle tone and frequent laryngomalacia.
  • A greater risk of aspiration, owing to muscular hypotonia
  • Small mouth, large tongue - likely, intubation will be more difficult
  • Atlantoaxial instability is reportedly very common, 15-30% of patients

Respiratory function:

  • Morbidity and mortality from respiratory disease(eg. ARDS) is greater in the Down syndrome population. Increased susceptibility to oxidative stress is blamed. 
  • Often, they have subpleural cysts, which can predispose them to pneumothoraces with high pressure ventilation
  • Often there may be pulmonary hypertension; of particular interest is pulmonary vein stenosis, which is rare but hideous and with a very high early childhood mortality

Cardiovascular features:

  • About 40-50% of these children have congenital cardiac abnormalities, and there's a fair spectrum of them, but the most common are ASDs and VSDs which can become cyanotic when pulmonary pressure increases (eg. in pneumonia)

Neurological features:

  • Hypotonia, i.e. poor muscle tone, may become an issue with ventilator weaning
  • Cognitive developmental delay may change the way you need to assess their neurology for extubation assessment

Endocrine associations

  • Hypothyroidism is common among Down syndrome patients

Nutritional issues 

  • Celiac disease is common; gluten-free NG feeds and oral diet may be necessary

Immune features

  • For unclear reasons, these children have worse outcomes from sepsis and respiratory infections than the general population.

References

Donoso, F. A., et al. "Down Syndrome child in the Intensive care unit." Revista chilena de pediatria 88.5 (2017): 668-676.

Benhaourech, Sanaa, Abdenasser Drighil, and Ayoub El Hammiri. "Congenital heart disease and Down syndrome: various aspects of a confirmed association." Cardiovascular journal of Africa 27.5 (2016): 287-290.