When Making the Exact Diagnosis Is Not Exactly the Right Thing to Do

Overdiagnosis in Pediatrics

William T. Basco, Jr., MD, MS; Ricardo A. Quinonez, MD; Alan R. Schroeder, MD


December 16, 2014

In This Article

Editor's Note: Overdiagnosis is increasingly recognized as a concern in adult medicine. But what about in pediatrics? Are the issues the same? A recent article explored the concept of overdiagnosis in children, examining potential harms and drivers of excessive care. William T, Basco, Jr., MD, MS, a Medscape Pediatrics advisor, director of the Division of General Pediatrics and professor of pediatrics at the Medical University of South Carolina in Charleston, spoke with the authors of this provocative new paper. Ricardo A. Quinonez, MD, also a Medscape Pediatrics advisor, is chief of the Division of Pediatric Hospital Medicine at Children's Hospital of San Antonio and an associate professor of pediatrics at Baylor College of Medicine. Alan R. Schroeder, MD, is chief of pediatric inpatient services at Santa Clara Valley Medical Center in San Jose, California, and an assistant clinical professor at Stanford University School of Medicine.

Dr Basco: Can you explain the concept of overdiagnosis, in contrast to misdiagnosis? How can physicians and patients recognize overdiagnosis?

Dr Quinonez: First of all, it is worth emphasizing that both misdiagnosis and overdiagnosis are things that we want to avoid. Misdiagnosis is when a physician makes a diagnosis that is incorrect. One example could be an infant with bronchiolitis who receives a chest x-ray, which is not recommended by evidence-based guidelines, and is diagnosed with bacterial pneumonia when they actually have viral pneumonia or bronchiolitis. That's a misdiagnosis.

Overdiagnosis would be obtaining that same chest x-ray and accurately diagnosing atelectasis, which is a frequent finding in children with bronchiolitis. It is a correct diagnosis, but no benefit for the child is associated with making that diagnosis. It will not improve their outcome. It will not do anything in the ultimate resolution of the disease.

Dr Schroeder: From a public health perspective, overdiagnosis can be recognized if the incidence of a disease is increasing dramatically but outcomes are not improved. That implies that the disease is being increasingly diagnosed, but patients are not benefiting from the excess diagnoses.

Dr Basco: How did you both become interested in this topic? Did personal experiences prompt your interest?

Dr Schroeder: To continue on the topic of bronchiolitis, like many people in residency, I was very frustrated by the number of children who got stuck in the hospital because they were on continuous pulse oximetry and had desaturations overnight to 86% or 88%, which would often result in the child remaining in the hospital for an additional day or more. It was very frustrating. It was very apparent to me that these desaturations were probably inconsequential and that it was not completely harmless to keep these patients in the hospital. And certainly, there were the associated costs.

I went on, shortly after residency, to study this issue of prolonged hospitalizations as a result of use of continuous pulse oximetry at the University of California, San Francisco, and was one of the first people to write about it. We determined that at least one quarter of all hospitalizations are prolonged by at least 1 day because of continuous pulse oximetry, which is effectively overdiagnosing hypoxemia in bronchiolitis.[1] Since then, I've continued to look for such examples where overdiagnosing or overtreating conditions is potentially causing harm to children.

Dr Quinonez: I got interested in this issue during my training and subsequently in my clinical practice, when I noticed variation in what physicians did, even when treating the same condition, same type of patient, and same level of illness. This variation didn't seem to make much of a difference. Those who utilized fewer diagnostic tests or fewer medications to treat the same condition ultimately seemed to have similar outcomes in their patients. Except that, importantly, high utilizers kept patients longer in the hospital and used more resources.

So my practice style followed the mentors whom I had who seemed to do less and get the same or, arguably, better results. And I've been preaching this message ever since.

Conditions Associated With Overdiagnosis

Dr Basco: You've mentioned bronchiolitis, which is certainly a very prevalent pediatric condition, along with two different issues that can lead to overdiagnosis in this condition: pulse oximetry and chest x-rays. What are some other common pediatric conditions where overdiagnosis is a problem?

Dr Schroeder: I primarily practice in a pediatric intensive care unit. We are the only trauma center for children in San Jose, California. So we see a lot of injured patients, both through direct admission to our hospital and transfers from elsewhere.

We see a lot of children with head trauma. My own clinical experience and descriptions in the literature illustrate the concern about unnecessary CT of the head in patients who clinically appear well, leading to overdiagnosis of small skull fractures or very small bleeds that almost invariably lead to hospitalization in the intensive care unit—along with, on occasion, further CT scans. That is a fairly common example of the overdiagnosis of minor abnormalities in head trauma, where the detection of those abnormalities does not benefit patients and can certainly cause harm.

Dr Quinonez: One condition that I deal with where I practice is hyperbilirubinemia. It's one of the conditions that we proposed as an overdiagnosed condition in our paper. It fits the criteria that we and others have specified for overdiagnosis.

The American Academy of Pediatrics guidelines for diagnosis and management of neonatal jaundice include an algorithm to standardize decisions about phototherapy.[2] Since their publication, we have definitely seen an increase in the incidence of this diagnosis. This is one of the criteria that you should look for when you're looking for overdiagnosis. You observe an increase in the incidence of an illness, and we certainly now hospitalize more children for phototherapy.

Then, you have to look at the outcomes that we're trying to prevent. In the case of hyperbilirubinemia, kernicterus is what we are trying to prevent, and we have not seen a concomitant decrease in its incidence in the past few years after the significant increase of phototherapy admissions. That is highly suggestive of overdiagnosis.

The other criterion in determining overdiagnosis is the issue of harm. And there is probably significant harm from this increase in diagnosis and treatment. The literature suggests a possible association between phototherapy and skin cancer.[3]

We also know, from older studies, that children who have been diagnosed with hyperbilirubinemia can suffer psychological harms later on, such as interference with maternal bonding and increased parental anxiety, with potential development of the vulnerable child syndrome.[4,5,6] Parents of children who have been diagnosed with hyperbilirubinemia are more likely to label subsequent illnesses as severe; much more likely to take the infant to the doctor for minor illnesses; and less likely to leave that child in the care of others, such as daycare or babysitters.


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