Neuronline review of SimulConsult by G. Fuller
Imagine the scene: you have just seen a patient with what seems likely to be an inherited or congenital syndrome who has a combination of symptoms and signs you do not recognise and in whom standard investigations have provided no clues. What do you do? Looking in the books is very time consuming and depends on how well the books are indexed; searching PubMed or online inheritance in man (OMIM) is often difficult using just symptoms and signs. Wouldn’t it be useful if you could put the clinical information into a database to narrow down the differential diagnosis? This is the idea that drives www.simulconsult.com, which describes itself as a “medical decision support software” that “allows doctors and other medical professionals to combine clinical and laboratory findings” and get a “simultaneous consult about diagnosis”. Registration is straightforward and this leads you to an introductory video and the opportunity to search the site. The searching is reasonably intuitive. You enter the age and sex, and then can add clinical feature and test results, either having searched for them or from an alphabetical or category based pick list.
by Orly Avitzur MD in the American Academy of Neurology’s publication “Neurology Today”:
James D. Reggin, MD, the only child neurologist at MeritCare Health System in Fargo, ND, was called into consultation for an infant delivered 11 days earlier by C-section, now in respiratory distress and intubated, when pediatricians observed persistent hypotonia and a poor sucking reflex. Dr. Reggin noted that the infant displayed dysmorphic features as well as severe microcephaly, syndactyly, and multiple capillary hemangiomas. When he could not pinpoint a specific syndrome, he turned to SimulConsult, a computerized decision-support tool that helps neurologists arrive at difficult diagnoses by entering a list of findings.
Despite having been in practice more than 12 years, he had never seen a case of Smith-Lemli-Opitz (SLO), the condition revealed to be “very high probability” by the program. Prompted by this discovery, he quickly obtained a serum cholesterol level and later confirmed the diagnosis of SLO by finding a marked elevation of 7-dehydroxycholesterol. Neurologists are increasingly using decision-support tools such as SimulConsult (simulconsult.com) to make diagnoses – and these and other resources improve patient safety.
American Academy of Neurology Neurology Today article “How Neurologists Use the Internet to Enhance Clinical Decision-Making” by Orly Avitzur MD. Excerpt:
If C. J. Malanga, MD, PhD had his way, neurologists would be required to – not left with the option of – learning how to use the Internet…. Dr. Malanga first discovered the benefits of the Internet as a child neurology fellow at Massachusetts General Hospital (MGH), trying to determine a differential diagnosis for a case posted on the weekly neuropathology conference. The case involved a 15-year-old boy who was first seen at age 5 with slurred speech and gait instability and who continued to deteriorate over the next 10 years with emerging marked dystonia, dysphagia, tics and seizures.
On their own, Dr. Malanga and fellow trainees came up with a long list of differential diagnoses. But after entering important variables in query form into a Web site, simulconsult.com, the search was narrowed considerably to Friedreich ataxia, Hallervorden-Spatz, and Huntington chorea (akinetic-rigid form). Autopsy revealed almost complete striatal atrophy with minimal cortical involvement. The final diagnosis, confirmed by CAG repeat count, was juvenile Huntington disease.
Note: Dr. Malanga ran this case through the software in May 2002. The case can be viewed in the current version of the software at this link and registered users can click into the software to see the differential diagnosis (only the clinical findings were used) and work with the case. Furthermore, adding the family history information (that the father was similarly affected but three siblings were not) using the family history feature added to the software after the Neurology Today article appeared, the correct diagnosis is elevated to #1 in the software by a wide margin.