Abstract
BackgroundRecently an increasing number of digital tools to aid clinical work have been published. This study’s aim was to create an algorithm which can assist physicians as a “digital expert” with the differential diagnosis of central ocular motor disorders, in particular in rare diseases.ResultsThe algorithm’s input consists of a maximum of 60 neurological and oculomotor signs and symptoms. The output is a list of the most probable diagnoses out of 14 alternatives and the most likely topographical anatomical localizations out of eight alternatives. Positive points are given for disease-associated symptoms, negative points for symptoms unlikely to occur with a disease. The accuracy of the algorithm was evaluated using the two diagnoses and two brain zones with the highest scores. In a first step, a dataset of 102 patients (56 males, 48.0 ± 22 yrs) with various central ocular motor disorders and underlying diseases, with a particular focus on rare diseases, was used as the basis for developing the algorithm iteratively. In a second step, the algorithm was validated with a dataset of 104 patients (59 males, 46.0 ± 23 yrs). For 12/14 diseases, the algorithm showed a sensitivity of between 80 and 100% and the specificity of 9/14 diseases was between 82 and 95% (e.g., 100% sensitivity and 75.5% specificity for Niemann Pick type C, and 80% specificity and 91.5% sensitivity for Gaucher’s disease). In terms of a topographic anatomical diagnosis, the sensitivity was between 77 and 100% for 4/8 brain zones, and the specificity of 5/8 zones ranged between 79 and 99%.ConclusionThis algorithm using our knowledge of the functional anatomy of the ocular motor system and possible underlying diseases is a useful tool, in particular for the diagnosis of rare diseases associated with typical central ocular motor disorders, which are often overlooked.
Highlights
An increasing number of digital tools to aid clinical work have been published
Germany Full list of author information is available at the end of the article laboratory examinations [1]. This means that, on the basis of clinical information, we can determine whether there is an impairment in the midbrain, pons, medulla or the cerebellar flocculus, nodulus, vermis, or fastigial nucleus. Rare diseases, such as Niemann-Pick type C (NPC) [2], Tay-Sachs (TS) or Gaucher’s disease type 3 (GD 3), are often overlooked, the diagnosis can often be made on the basis of the patient history and clinical examination and confirmed by genetic testing
The sensitivity ranged from 100% (NPC, ataxia teleangiectasia (AT), AOA1 and 2, GD 3, TS, progressive supranuclear palsy (PSP), Wernicke’s encephalopathy, inflammatory encephalitis, infarction /hemorrhage) to 75%
Summary
An increasing number of digital tools to aid clinical work have been published. We do have detailed knowledge on the anatomy, physiology and pathophysiology of ocular motor disorders, which allows a precise topographic anatomical diagnosis based on bedside examination even without any Rare diseases, such as Niemann-Pick type C (NPC) [2], Tay-Sachs (TS) or Gaucher’s disease type 3 (GD 3), are often overlooked, the diagnosis can often be made on the basis of the patient history and clinical examination and confirmed by genetic testing. From a therapeutic point of view, these diseases should not be overlooked because several of them are treatable nowadays [3, 4] Facing these problems, we designed a simple and easyto-use algorithm to help clinicians to correctly diagnose central ocular motor disorders and, in particular, associated rare diseases. Similar approaches have been recently used to diagnose cerebellar ataxias [5] or vertigo and dizziness [6]
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