Clinical case 1

INSTRUCTIONS.
Read Case 1: An 8-month-old boy with macrocephaly and kyphosis

At his 6-month checkup, the boy was noted to have macrocephaly and kyphosis, and the pediatrician decided to see him in a follow-up visit. But at 8 months of age, he presented at the hospital with macrocephaly that had worsened so dramatically that it was all that was mentioned by the pediatrician, who became concerned about the possibility of a brain tumor and called a pediatric neurology consult. On examination, the neurology resident noted the patient was of normal height but had kyphosis in addition to macrocephaly, and on trying to look at the fundi, noticed corneal clouding.

Now, use SimulConsult to mull over the patient.

A. Start SimulConsult. Log into SimulConsult (or go to the Start tab on the black navigation bar, clear patient data to start another case).

B. Enter initial data. On the Start screen of the software, begin by adding age (be sure to add the units, such as months) and sex.

C. Adding findings
There are several modes (described below) of adding finding information to the patient phenotype. Each has a “presence button” to the left of the finding that allows you to specify whether the finding is present or absent. This is different for “Bundles”, where clicking on the Bundle button displays multiple findings from a test or evaluation.

Add findings directly
Describe your patient’s findings using any of the 3 cognitive modes of diagnosis, accessed through options on the top black navigation bar.

1. Free-form: Use Search (🔍) to add pertinent positive or pertinent negative findings one at a time to the patient’s phenotype, or use our natural language processing (accessed from the flag (⚑) on the black navigation bar) to type or copy/paste text, such as from a note, and then select the findings flagged.

Although SimulConsult’s NLP is optimized for diagnosis, NLP isn't perfect. Use your clinical judgment to add the relevant/believable findings to the patient's phenotype. Either (a) add findings using the presence button to the left of the flag and finding or (2) click on the flag, review the source text, and then specify the presence or absence within that menu or leave it unspecified.

2. Workup: Use a pre-structured workup (W/u) on the black navigation bar. Begin by selecting a problem associated with a single finding, a specialty, or a review of systems. After adding the first finding, the green Usefulness shading will suggest other findings on which to comment. Select Tests (top right) to highlight relevant tests.

3. Disease candidate: If you have a good guess as to the diagnosis and want to quickly comment on relevant findings and generate a differential diagnosis, use Disease/Search on the black navigation bar to choose the disease candidate, then use Disease/Profile to comment on findings that are positive or negative.

D. Refining the differential diagnosis

• Differential diagnosis. To view the evolving differential diagnosis, go to Dx on the black nav bar. The blue shading indicates the probability of that disease based on the information entered. Cumulatively, the blue shading adds to 100%.
• Advice on Useful findings: On Dx/Add findings or Dx/Add tests, the green shading shows the Usefulness of findings in narrowing the differential diagnosis. On Dx/Add tests, you can view “All tests” or select a subset in the top right, such as Radiology.
• Phenotype: If you want to see or change what you have already entered, go to Dx/Phenotype.

E. Tips
1. The blue info buttons in the software contain the most detailed and contextually relevant information.
2. Color has meaning in the software: green relates to findings, and blue to diseases.

F. Outputs
Select from several outputs optimized for different purposes.

1. SOAP note (with HPO codes). The software automatically generates a draft SOAP note. Go to Report/Soap note) and copy/paste it into your EMR, editing as needed. The report includes the Human Phenotype Ontology (HPO) codes for submission to labs.
2. Prior authorization support. Automatically reveal the logic of your testing decisions for prior authorization (payers like it). Go to the Report/Patient Summary PDF file and save as a PDF.