AI-based differential diagnosis of dementia etiologies on multimodal data.

Journal: Nature medicine
PMID: 38965435

Abstract

Differential diagnosis of dementia remains a challenge in neurology due to symptom overlap across etiologies, yet it is crucial for formulating early, personalized management strategies. Here, we present an artificial intelligence (AI) model that harnesses a broad array of data, including demographics, individual and family medical history, medication use, neuropsychological assessments, functional evaluations and multimodal neuroimaging, to identify the etiologies contributing to dementia in individuals. The study, drawing on 51,269 participants across 9 independent, geographically diverse datasets, facilitated the identification of 10 distinct dementia etiologies. It aligns diagnoses with similar management strategies, ensuring robust predictions even with incomplete data. Our model achieved a microaveraged area under the receiver operating characteristic curve (AUROC) of 0.94 in classifying individuals with normal cognition, mild cognitive impairment and dementia. Also, the microaveraged AUROC was 0.96 in differentiating the dementia etiologies. Our model demonstrated proficiency in addressing mixed dementia cases, with a mean AUROC of 0.78 for two co-occurring pathologies. In a randomly selected subset of 100 cases, the AUROC of neurologist assessments augmented by our AI model exceeded neurologist-only evaluations by 26.25%. Furthermore, our model predictions aligned with biomarker evidence and its associations with different proteinopathies were substantiated through postmortem findings. Our framework has the potential to be integrated as a screening tool for dementia in clinical settings and drug trials. Further prospective studies are needed to confirm its ability to improve patient care.

Authors

  • Chonghua Xue
    Section of Computational Biomedicine, Department of Medicine, Boston University School of Medicine, 72 E. Concord Street, Evans 636, Boston, MA, 02118, USA.
  • Sahana S Kowshik
    Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
  • Diala Lteif
    Department of Computer Science, Boston University, Boston, Massachusetts, USA.
  • Shreyas Puducheri
    Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
  • Varuna H Jasodanand
    Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
  • Olivia T Zhou
    Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
  • Anika S Walia
    Cardiovascular Imaging Research Center, Department of Radiology, Massachusetts General Hospital & Harvard Medical School, Boston, Massachusetts.
  • Osman B Guney
    Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
  • J Diana Zhang
    Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
  • Serena Poésy
    Department of Radiology, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
  • Artem Kaliaev
    Department of Radiology, Boston Medical Center, Boston, Massachusetts.
  • V Carlota Andreu-Arasa
    Department of Radiology, Boston Medical Center, Boston University School of Medicine, FGH Building, 3rd Floor, 820 Harrison Avenue, Boston, MA, 02118, USA.
  • Brigid C Dwyer
    Department of Neurology, Boston University School of Medicine, Boston, MA, USA.
  • Chad W Farris
    Department of Radiology, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
  • Honglin Hao
    Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
  • Sachin Kedar
    Department of Neurological Sciences, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
  • Asim Z Mian
    Department of Radiology, Boston University School of Medicine, Boston, MA, USA.
  • Daniel L Murman
    Department of Neurological Sciences, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
  • Sarah A O'Shea
    Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
  • Aaron B Paul
    Department of Radiology, Lahey Hospital & Medical Center, Burlington, MA, USA.
  • Saurabh Rohatgi
    Department of Radiology, Massachusetts General Hospital, Boston, MA, USA.
  • Marie-Helene Saint-Hilaire
    Department of Neurology, Boston University School of Medicine, Boston, MA, USA.
  • Emmett A Sartor
    Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
  • Bindu N Setty
    Department of Radiology, Boston Medical Center, Boston University School of Medicine, FGH Building, 3rd Floor, 820 Harrison Avenue, Boston, MA, 02118, USA.
  • Juan E Small
    Department of Radiology, Lahey Hospital & Medical Center, Burlington, MA, USA.
  • Arun Swaminathan
    Department of Neurological Sciences, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
  • Olga Taraschenko
    Department of Neurological Sciences, College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
  • Jing Yuan
    School of Acu-Mox and Tuina, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
  • Yan Zhou
    Department of Computer Science, University of Texas at Dallas, Richardson, Texas 75080, United States.
  • Shuhan Zhu
    Department of Neurology, Boston University School of Medicine, Boston, MA, USA.
  • Cody Karjadi
    Framingham Heart Study, Boston University, Boston, MA, USA.
  • Ting Fang Alvin Ang
    The Framingham Heart Study, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
  • Sarah A Bargal
    Department of Computer Science, Georgetown University, Washington, DC, USA.
  • Bryan A Plummer
    Department of Computer Science, Boston University, Boston, Massachusetts, USA.
  • Kathleen L Poston
    From the Departments of Radiology (K.T.C., F.B.d.C.M., S.S., G.Z.), Electrical Engineering (E.G., J.M.P.), and Neurology and Neurological Sciences (A.B., K.L.P., S.J.S., M.D.G., E.M.), Stanford University, 1201 Welch Rd, Stanford, CA 94305; Department of Engineering Physics, Tsinghua University, Beijing, PR China (J.X.); GE Healthcare, Menlo Park, Calif (M.K.); and Subtle Medical, Menlo Park, CA (E.G.).
  • Meysam Ahangaran
    Department of Medicine, Boston University Chobanian & Avedisian School of Medicine, Boston, MA, USA.
  • Rhoda Au
    Boston University School of Medicine, rhodaau@bu.edu.
  • Vijaya B Kolachalama
    1Section of Computational Biomedicine, Department of Medicine, Boston University School of Medicine, Boston, MA 02118 USA.

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