September Week 4

Managing Patients With Down Syndrome


American Family Physician Article – Primary Care of Infants and Young Children with Down Syndrome

Journal of Pediatrics Article


You are a pediatrician in private practice and are seeing a 3 day old male for his first newborn visit 
after discharge from the hospital. The parents have been told that the baby has a diagnosis of Down Syndrome. 
Genetic testing has already been done to confirm the diagnosis.
1. What are the phenotypic features to look out for in this baby?
2. What additional anticipatory guidance would you give the parents at this age?
3. Would you obtain any bloodwork?

You continue to follow the patient as his primary pediatrician through 1 year of age.
1. What additional specialists might you refer the patient to as you do your well child evaluations?
2. At what age would you consider additional blood work?
3. How would you track the growth and development of this infant?

At 3 years of age, the parents would like him to participate in some sports.
1. Do you need to order any specific studies prior to allowing him to participate in contact sports?

Your patient is now approaching adolescence.
1. What type of anticipatory guidance would you give the family and patient now?