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Low disease burden among children and developmental considerations significantly influence the diagnostic process in pediatric medicine. Pediatric patients’ constantly changing anatomy, development, and physiology present distinct challenges related to accurate and timely diagnosis of their health conditions. Limited access to specialized pediatric providers and healthcare facilities with appropriate resources negatively impacts pediatric diagnostic safety. Below, we summarize three specific pediatric challenges.

Low Disease Burden and Implications for Diagnostic Testing

Physician-reported experiential data support that most children with MDOs present for acute care with common undifferentiated symptoms.¹⁴ The primary patient concerns at these encounters frequently involve one of two situations:

• Common time-limited conditions (e.g., mild viral illnesses, minor injuries, bronchiolitis, acute asthma exacerbations), or
• Common symptoms that are far more likely to be associated with benign rather than serious illness (e.g., fever or abdominal pain).¹⁵

While “the chance of serious disease [in children] is low… the consequences of not treating specific illnesses are devastating.”¹⁶ The juxtaposition of the risk of missing rare but serious life-limiting illness against a backdrop of a generally healthy population creates tension during the diagnostic process for clinicians treating children.

For example, abdominal pain is one particularly common and challenging chief complaint given its broad differential diagnosis of both self-limited and serious etiologies that drastically vary by age group.¹⁷ One retrospective study of nearly 1,000 primary care patients ages 4-18 years found that 9 percent of patients attended at least one acute care visit for abdominal pain over a 6-month period. Nearly half of those visits ended with diagnoses of acute or chronic constipation.¹⁸ However, studies consistently show that appendicitis is at high risk for misdiagnosis, and symptoms are often attributed to constipation.^19-21

Pediatricians are aware of pediatric malpractice claims data showing that appendicitis, along with meningitis and pneumonia, are among the most frequent conditions resulting in closed claims.^22,23 Nonetheless, appendicitis remains a perennial MDO despite the need for accurate and timely recognition to minimize morbidity and mortality.^24,25  

Providing safe and accurate pediatric care is also complicated by several factors related to diagnostic testing. Pediatric diagnoses such as Kawasaki disease, bronchiolitis, autism spectrum disorder, and juvenile idiopathic arthritis do not have singular criterion standard tests that provide a definitive diagnosis. Instead, providers must synthesize the history of present illness, physical examination, imaging, and less specific laboratory testing to achieve an accurate and timely explanation of their young patients’ health problems.

When definitive tests exist, such tests may expose children to greater risks than similar testing in adults. Cumulative ionizing radiation exposure, especially when first exposure occurs in infancy, places children at higher risk of malignancy over their lifetime.^26,27 Thus, clinicians caring for children must carefully weigh the risks and diagnostic yield associated with computed tomography and fluoroscopy.^28-30

The risks of testing are not isolated to medical complications. Overtesting, including seemingly benign sample acquisition, can expose children to painful procedures they may not fully understand or accept and negatively affect future responses to procedures or healthcare encounters.^31,32 Therefore, clinicians treating children may hesitate to order certain tests to avoid adding to their patients’ pain and suffering during the diagnostic process or creating fear of undergoing tests at future encounters. Further, overtesting can have significant financial implications as it contributes to wasteful healthcare spending and can burden patients and caregivers with unnecessary costs.^33,34

Pediatric diagnostic testing recommendations frequently advise against obtaining low-yield studies for many conditions. For example, all five Choosing Wisely recommendations from the American Academy of Pediatrics (AAP) Section on Emergency Medicine advocate for reducing testing for conditions ranging from lower respiratory tract infections and constipation to febrile seizures and head trauma.³⁵

Tension exists because many conditions that are not dangerous present with similar signs or symptoms as more serious illnesses and injuries. While robust evidence promotes diagnostic test stewardship for patients with certain conditions, clinician risk tolerance contributes significantly to variation in testing practices and can lead to testing that provides little diagnostic value.^36-38 In addition, parents rarely have knowledge of the evidence supporting diagnostic testing recommendations.

Caregivers’ desire for reassurance may drive demands for testing, even when the tests are unnecessary.³⁹ Thus, evidence-based testing recommendations may be ignored to reduce uncertainty for both providers and parents. This approach of overtesting, although not an MDO, nonetheless exposes children to possible harm if test results lead to unnecessary treatment or more invasive confirmatory testing.

The generally low likelihood of diagnosing serious illnesses may also lead clinicians toward opposite behavior, forgoing tests that may be warranted. Although it is less well studied, pediatric clinicians warn about the risks of improper reliance on heuristic-driven diagnostic reasoning.^16,40 When heuristics fail, they are often called cognitive biases.⁴¹

Frequency gambling, the bias of attributing a child’s symptoms to a benign common condition rather than a rarer, more serious one, likely contributes to frequent MDOs among children precisely because this strategy often ends without patient harm. Illustratively, Lam, et al., found that multiple clinicians exhibited similar diagnostic reasoning when caring for children presenting to the ED with new-onset headaches.⁹ After the children improved with “migraine cocktails,” the clinicians opted for a diagnosis of migraine headache despite indications that more serious intracranial processes may be present.

Suboptimal cognitive acts such as frequency gambling are not unique to pediatrics.⁴² However, pediatric clinicians may unconsciously use heuristics that presume good outcomes based on a preponderance of previous good outcomes (e.g., outcome bias, ascertainment bias) more routinely than other cognitive biases. Further study of these impacts on pediatric diagnostic reasoning holds promise for improving diagnostic calibration.

Limited Access to Specialized Pediatric Care

Another pressing diagnostic safety issue facing children today involves access to providers specialized in the care of children. Every year, many children seek medical care at nonpediatric facilities, such as adult EDs and urgent care centers. According to a national assessment of 4,149 EDs conducted by Gausche-Hill, et al., nearly all (97%) respondents caring for children resided in nonpediatric facilities and accounted for 83 percent of all pediatric ED visits.⁴³

This scenario presents diagnostic challenges for children and their families as nonpediatric healthcare providers may lack the knowledge, procedural skills, and comfort needed to care for this unique patient population. A survey of 375 nonpediatric ED providers (physicians, nurse practitioners, and physician assistants) found that less than half of the respondents felt comfortable caring for a child less than 3 months of age.⁴⁴ This lack of familiarity and comfort with pediatric diagnoses places patients at risk for misdiagnosis, underdiagnosis, and overdiagnosis.

Many organizations, such as AAP and the American College of Emergency Physicians, have long advocated improvements in ED readiness to care for children. These efforts led to the formation of the National Pediatric Readiness Project (NPRP) in 2009. This multiphase quality improvement initiative was founded to help ensure that all U.S. EDs had the necessary clinical guidelines, provider competencies, and material resources to provide optimal care for children.

EDs with high pediatric readiness scores are associated with decreased mortality.^45,46 As the pediatric readiness score includes assessment of pediatric clinical competency of ED providers, decreased mortality in high-readiness facilities can be partly attributed to improved diagnostic performance in pediatric patients.

Unfortunately, only 55 percent of U.S. children reside within a 30-minute drive of an ED with pediatric readiness above the 90th percentile.⁴⁷ Similar accessibility trends also affect children who require hospital admission. Twenty percent of children and youth have special care needs that require intensive and specialty care in the first two decades of life.⁴⁸ Yet, Cushing, et al., found that from 2008 to 2018, the number of pediatric inpatient units decreased by 19.1 percent and pediatric inpatient beds decreased by 11.8 percent nationally.⁴⁴ In addition, the percentage of children whose nearest hospital contained a pediatric inpatient unit decreased from 51.6 percent to 41.7 percent.

Another study found that as many as 39 percent of children with one complex chronic condition and 27 percent of children with multiple complex chronic conditions are admitted to nonpediatric hospitals annually.⁴⁹ These facilities often lack staff adequately trained in pediatric care, specialized equipment, supplies, medications, and pediatric-specific care pathways and policies, increasing their risk of misdiagnosis.

Growing Medical Complexity

Given the challenges with access to specialized pediatric care, the rapidly growing subset of children with medical complexity (CMC) represents a population with considerable diagnostic safety risks.^49,50 This population presents its own potential diagnostic pitfalls given chronic multisystem health issues, technology dependence, functional limitations, and high resource use.^51-53

CMC often have increased variation in care, especially related to diagnostic testing.⁵⁴ In addition, this population is more susceptible to adverse events from medical errors.^55,56 Morse, et al., provide one example of how clinical decision support tools can be used to direct a medical evaluation and enhance differential diagnoses in CMC patients presenting with pain of unknown etiology.⁵⁷

Specialized clinics may also address undiagnosed conditions.^40,58 However, CMC present numerous challenges for achieving diagnostic excellence. Some patients may be nonverbal or receive care from both in-home providers and numerous specialists, often at multiple institutions, which creates added difficulty in the diagnostic process when new symptoms arise. Therefore, improving diagnosis in CMC must remain a priority.

In summary, because of the wide-ranging diagnostic challenges unique to pediatric patients, continued focus on pediatric diagnostic safety is imperative to reduce MDOs and improve patient outcomes.