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Case Study #3

Snoring and Down Syndrome

Timmy is a 5-year-old with Down syndrome, born to a mother who was 37 years old at the time of his delivery. His genetic studies have confirmed Trisomy 21. He has missed a number of well-child visits because his mother does not like to see him “hurt” with shots, and she has not followed routine recommendations for blood and medical studies. His last laboratory studies were at age 12 months with a lead and complete blood cell count, but his shots are up to date. His newborn screen showed normal thyroid function. Timmy is pale and often very sleepy during the day, but restless when he naps or overnight, and often snores very loudly. His mother is concerned that something is wrong. At the 5-year well-child visit, she confides in you that she does not want to attend the many follow-up visits ordered for her special needs son, because her three other children never needed more than yearly visits after age 2 years.  She is also upset that the doctor keeps telling her that he is too heavy, but he is smaller than her other children at this same age and loves to eat. He had trouble growing in infancy and she had to work on getting him to eat, and now she likes to reward him with snacks as he works very hard in preschool to keep up with his peers.

How can the office nurse counsel the mother about testing and follow-up needs for Timmy?
Is Timmy at risk for abnormal laboratory studies?  When should these be performed?
Should his mother be concerned about his sleep pattern snoring at this young age?
Should Timmy’s mother be concerned now about his feeding and weight?
Please include References 

SCIENCE
HEALTH SCIENCE
NURSING
NSG 325

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