Examples of Possible Overdiagnosis in Pediatrics

DiagnosisEvidence of Overdiagnosis
ADHDThe youngest children for a given grade level are significantly more likely than their older classmates to receive a diagnosis of ADHD.8385 Although this phenomenon has been labeled overdiagnosis, one could argue that misdiagnosis is more appropriate (ie, immaturity is misdiagnosed as ADHD).
AspirationThe natural course of aspiration detected by swallow study in anatomically and neurologically normal infants is complete resolution.80,81 It is unknown whether making this diagnosis benefits infants. The largest assessment of outcomes for neurologically impaired infants found that fundoplication did not reduce their risk of hospitalization for respiratory illness.82
BacteremiaA trial of children age 3–36 mo presenting to an emergency department with fever >39°C treated 19 children with bacteremia with placebo (no antibiotic).9 Eighteen children had spontaneous resolution of bacteremia at 48 h. None developed serious morbidity (meningitis, pneumonia, bone or joint infection, cellulitis).
Cholelithiasis50% of children diagnosed with cholelithiasis in 1 study were completely asymptomatic at diagnosis, of whom 95% were free of complications on long-term follow-up.86
Food allergyChildren can have positive immunoglobulin E test results indicating sensitization but not necessarily suffer from a clinical allergy.87 For example, 17% of people are sensitized to a major food allergen, but only 2.5% have a clinical food allergy.88
Gastroesophageal refluxReflux is common in the first 6 mo of age and nearly completely resolves by 12 mo of age, independent of any medical interventions.89,90 A randomized trial found no benefit to treatment of symptoms attributed to gastroesophageal reflux disease in infants but did find that medication increased the risk of lower respiratory tract infections.91 Yet gastroesophageal reflux disease diagnoses and treatments with medication for infants are common and increasing.92,93
HyperbilirubinemiaThere was no change in mortality due to kernicterus between 1979 and 2006,14 despite increased vigilance for hyperbilirubinemia, including bilirubin testing and phototherapy.94,95
HypercholesterolemiaThe 2011 National Heart, Lung, and Blood Institute guidelines recommend universal screening for children age 9–11 and potentially qualify 200 000 children for treatment,96 with unclear evidence for long-term harms and benefits of diagnosis and treatment.9799
Hypoxemia in bronchiolitisHospital admissions for children with bronchiolitis have significantly increased since 1980, a period coinciding with increased use of pulse oximetry, yet mortality from bronchiolitis during the same time period has been unchanged.13,100 Oxygen saturation changes as small as 2% significantly increase a physician’s decision for admission, and the diagnosis of hypoxemia by continuous pulse oximetry prolongs hospitalization, but there is no evidence that supplemental oxygen for transient desaturations benefits children.101103
Medium-chain acyl-coenzyme A dehydrogenase deficiencyA portion of newborns identified by newborn screening may never experience symptoms of their enzymatic defect. Studies have identified affected but completely asymptomatic older siblings of screening-identified newborns,11 and some mutations identified by newborn screening have acylcarnitine profiles that normalize over time.104
NeuroblastomaA portion of neuroblastoma diagnoses will regress without treatment.105 Screening children for neuroblastoma identifies more lower-stage cancers but does not reduce end-stage neuroblastoma or mortality.2,4
OSAIn 1 trial, almost half of children with OSA randomized to watchful waiting had complete normalization of their polysomnographic findings 7 mo after enrollment.106 The same trial failed to show a benefit for the primary outcome (attention and executive function) after surgical intervention for OSA. Tonsillectomy rates nearly doubled between 1996 and 2006,107 a proportion of which probably are attributable to the surgical indication of OSA, which increased from 12% of patients in 1970 to 77% in 2005.108
Skull fractureChildren with isolated skull fractures have excellent outcomes without neurosurgical intervention, yet they are subjected to repeat CT scanning and often hospitalized.109111
UTIAccording to a Pediatric Research in Office Settings study of young, febrile infants, of 807 febrile infants never tested or treated for UTI, 61 were predicted to have a UTI based on the application of predictors of UTI in infants who did undergo urine testing.10 Only 2 of the 807 infants not initially tested or treated were later diagnosed with a UTI, and none suffered immediate morbidity or mortality.
VURMost VUR, including high-grade VUR, resolves over time, and few if any interventions for VUR decrease rates of renal scarring or insufficiency.112,113
  • OSA, obstructive sleep apnea; UTI, urinary tract infection; VUR, vesicoureteral reflux.