Noise in the diagnosis of epilepsy by experts.

Journal: Epileptic disorders : international epilepsy journal with videotape
Published Date: Jan 20, 2026

Abstract

OBJECTIVE: To measure the relative levels of signal and noise in expert diagnosis of epilepsy. METHODS: Twenty multinational epileptologists independently reviewed 50 vignettes of adult and pediatric patients presenting with suspected seizure(s) on two separate occasions with a ≥30-day washout period. Experts provided a diagnosis of epilepsy or non-epilepsy based on clinical information and, if requested, routine EEG and neuroimaging data. Cases had an established clinical diagnosis of epilepsy or non-epilepsy based on capture of habitual paroxysmal events on video-EEG or long-term clinical follow-up. Experts' judgments were analyzed to decompose variability into different sources: signal (objective differences between cases), level noise (experts' bias toward over/under-diagnosis), pattern noise (experts' idiosyncratic reactions to specific case features), and occasion noise (inconsistency across occasions). RESULTS: The probability of an expert making a different diagnosis for a given case on two different occasions was 16%. The probability of two different experts making a different diagnosis for the same case was 26%. Signal (case "difficulty") accounted for 66-69% of total variation, with 31-34% attributable to noise. Level noise was the largest contributor in the absence of EEG/neuroimaging results (23%), while pattern noise dominated when test results were available (24%). Occasion noise contributed relatively little (1%) but was still sufficient to cause diagnostic reversals in 16-22% between occasions. SIGNIFICANCE: The degree of noise in expert diagnosis of epilepsy is substantial, stemming primarily from physicians' idiosyncratic interpretations of case features and variable dispositions toward over- or under-diagnosis. Strategies to improve reliability are needed, including standardized data collection protocols and structured decision algorithms. For "difficult cases," where expert reliability and accuracy are lowest, our findings support current clinical practice which favors early referral for video-EEG monitoring over reliance on diagnostic anchoring. This diagnostic pathway may become more accessible with advances in EEG technology (e.g., wearable devices) and artificial intelligence.

Authors

  • Fábio A Nascimento
    Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts.
  • John R McLaren
    Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Wei Zhao
    Key Laboratory of Synthetic and Biological Colloids, Ministry of Education, Jiangnan University, Wuxi 214122, Jiangsu Province, P. R. China. [email protected] [email protected].
  • Roohi Katyal
    Department of Neurology, Louisiana State University Health Sciences, Shreveport, Louisiana, USA.
  • Irfan S Sheikh
    From the Department of Neurology (W.G., H.J.R., I.S.S., L.M.), Massachusetts General Hospital, Boston; Department of Neurology (M.B.W.), Beth Israel Deaconess Medical Center, Boston, MA; Information Technology Division (A.L.W.), Cleveland Clinic, OH; Department of Neurology (L.K.J.), Mayo Clinic, Rochester, MN; and Department of Neurology (L.M.), Harvard Medical School, Boston, MA.
  • Wan Yee Kong
    Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan, USA.
  • Danah Aljaafari
    Department of Neurology, King Fahd Hospital of the University, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
  • Nirav Barot
    Department of Neurology, Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.
  • Selim Benbadis
    Department of Neurology, University of South Florida - Tampa General Hospital, Tampa, Florida, USA.
  • Daniel Friedman
    Duke Clinical Research Institute, Durham, North Carolina; Division of Cardiology, Department of Medicine, Duke University School of Medicine, Durham, North Carolina.
  • Jay R Gavvala
    Department of Neurology, McGovern Medical School, University of Texas Health Science at Houston, Houston, Texas, USA.
  • Jonathan Halford
    Department of Neurology, Medical University of South Carolina, Charleston, South Carolina, USA.
  • R Edward Hogan
    From the Neuroimaging of Epilepsy Laboratory (R.S.G., H.-M.L., B.C., S.-J.H., N.B., A.B.), Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada; Pediatric Neurology Unit and Laboratories (C.B., M.L., R.G.), Children's Hospital A. Meyer-University of Florence, Italy; Epilepsy Unit (F.D.) and Neuroradiology (L.D.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Department of Neurology (V.C.M.C., F.C.), University of Campinas, Brazil; The Florey Institute of Neuroscience and Mental Health and The University of Melbourne (M.S., G.J.), Victoria, Australia; Department of Pediatrics (D.V.S.), British Columbia Children's Hospital, Vancouver, Canada; Aix Marseille University (F.B.), INSERM UMR 1106, Institut de Neurosciences des Systèmes; Aix Marseille University (M.G.), CNRS, CRMBM UMR 7339, Marseille, France; Freiburg Epilepsy Center (A.S.-B., H.U.), Universitätsklinikum Freiburg, Germany; Department of Neurology (K.H.C.), Yonsei University College of Medicine, Seoul, Korea; and Department of Neurology (R.E.H.), Washington University School of Medicine, St. Louis, MO.
  • Peter W Kaplan
    Department of Neurology, Johns Hopkins, Baltimore, Maryland, USA.
  • Ioannis Karakis
    Department of Neurology, School of Medicine, Emory University, Atlanta, GA, United States.
  • Atul Maheshwari
    Department of Neurology, Baylor College of Medicine, Houston, TX, USA.
  • Rebecca Matthews
    Department of Neurology, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Cormac O'Donovan
    Department of Neurology, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
  • Stefan Rampp
    Department of Neurosurgery and Neuroradiology, University Hospital Erlangen, Erlangen, Germany.
  • Stephan Schuele
    Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
  • Joseph Sirven
    Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
  • William O Tatum
    Department of Neurology, Mayo Clinic, Jacksonville, Florida.
  • Jonathan Williams
    Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Elza Márcia Yacubian
    Department of Neurology and Neurosurgery, Universidade Federal de São Paulo, São Paulo, Brazil.
  • Doyle Yuan
    Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
  • Sándor Beniczky
    Department of Clinical Neurophysiology, Aarhus University Hospital and Department of Clinical Medicine, Aarhus University, Aarhus, Denmark; Department of Clinical Neurophysiology, Danish Epilepsy Centre, Dianalund, Denmark. Electronic address: [email protected].
  • Olivier Sibony
    Université de Paris Cité, 75006, Paris, France; Department of Obstetrics and Maternal-Fetal Medicine, Assistance Publique des Hôpitaux de Paris Hôpital Robert Debré, 75019 Paris, France.
  • M Brandon Westover
    Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts.

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