title: How Doctors Think: Common Diagnostic Errors in Clinical Judgment-Lessons from an Undiagnosed and Rare Disease Program.
abstract: The scientific process of analysis and deduction is frequently, often subconsciously, used by physicians to develop a differential diagnosis based on patients' symptoms. Common disorders are most frequently diagnosed in general practice. Rare diseases are uncommon and frequently remain undiagnosed for many years. Cognitive errors in clinical judgment delay definitive diagnosis. Whole-exome sequencing has helped identify the cause of undiagnosed or rare diseases in up to 40% of children. This article provides experiences with an undiagnosed or rare disease program, where detailed data accumulation and a multifaceted analytical approach assisted in diagnosing atypical presentations of common disorders.
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, 999 North 92nd Street, Suite C450, Milwaukee, WI 53226, USA. Electronic address: rkliegma@mcw.edu.
authors.forename: Robert M
authors.initials: RM
authors.lastname: Kliegman
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, 999 North 92nd Street, Suite C450, Milwaukee, WI 53226, USA.
authors.forename: Brett J
authors.initials: BJ
authors.lastname: Bordini
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, 999 North 92nd Street, Suite C450, Milwaukee, WI 53226, USA.
authors.forename: Donald
authors.initials: D
authors.lastname: Basel
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, 999 North 92nd Street, Suite C450, Milwaukee, WI 53226, USA.
authors.forename: James J
authors.initials: JJ
authors.lastname: Nocton
mesh_terms: D002648:Child; D003657:Decision Making; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D059472:Exome / Q000235:genetics; D006801:Humans; D007600:Judgment; D035583:Rare Diseases / Q000175:diagnosis*; D017422:Sequence Analysis, DNA
keywords: Misdiagnosis; Undiagnosed or rare diseases (URDs); Whole-exome sequencing