Delayed diagnosis and misdiagnosis of type 1 diabetes in children and adolescents: a scoping review

Abstract Background: Different types of diabetes mellitus in children and adolescents are characterised by their clinical presentation and/or course heterogeneity. As disease management and complications are not identical, a correct diagnosis by healthcare professionals (HCPs) is vital. Delayed or missed diagnosis can have serious clinical consequences. The objective of this review was to examine studies of people who were diagnosed with type 1 diabetes (T1D) at some point, whose diagnosis changed from another condition to T1D, or from T1D to another condition Methods We performed a scoping review, following a predefined protocol (PRISMA-ScR guidelines) and the “population-concept-context” approach for eligibility criteria Results We included 27 studies from an initial screening of 1,936 records. For newly diagnosed T1D, the frequency of delayed diagnosis was 14.1–46.6% when DKA status was not stratified, 55.0–58.7% among those without DKA, and 43.0–98.1% among those with DKA. Diagnosis at 1 st healthcare contact was missed in 16.0-38.7% of cases when DKA status was not stratified, 5.0–34.8% among those without DKA, and 0.6–72.0% among those with DKA. The misclassification frequency between T1D and T2D was 1.4-22.7%. In a population of patients with atypical presentation of T1D, 11.6% were subsequently reclassified as maturity-onset diabetes of youth while in a cohort of T1D patients, 4.58% were finally diagnosed with Wolfram syndrome. Studies addressing classification of diabetes type reported the use of diagnostic protocols or algorithms and performed genetic testing for a correct diagnosis. The most frequent errors made by HCPs were the omission or misinterpretation of clinical symptoms and improper handling of laboratory examinations. Misdiagnosis was associated with errors in management, increasing the risk of adverse events Conclusions Published studies indicate that missed recognition, diagnostic delay, and diabetes-type misclassification occur in paediatric diabetes care, but reported frequencies vary markedly due to differences in populations, settings, definitions, and ascertainment methods.