Clinical case 1

Question Title

* 1. Name

Question Title

* 2. Email (use your work email)

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.

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.
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.

Question Title

* 3. Choose diagnoses. Record your impression of the differential diagnosis (using or ignoring the software results as you deem appropriate) by ranking at least 1 and up to 3 diagnoses from the list provided. You get the most credit for having the correct diagnosis as rank #1, but you also get some credit for having it in other positions. (One selection allowed per column)

	Rank 1	Rank 2	Rank 3
Achondroplasia	Achondroplasia Rank 1	Achondroplasia Rank 2	Achondroplasia Rank 3
Acromesomelic dysplasia, Maroteaux type	Acromesomelic dysplasia, Maroteaux type Rank 1	Acromesomelic dysplasia, Maroteaux type Rank 2	Acromesomelic dysplasia, Maroteaux type Rank 3
Alexander disease, neonatal	Alexander disease, neonatal Rank 1	Alexander disease, neonatal Rank 2	Alexander disease, neonatal Rank 3
Alpha-mannosidosis	Alpha-mannosidosis Rank 1	Alpha-mannosidosis Rank 2	Alpha-mannosidosis Rank 3
Atelosteogenesis, type 2	Atelosteogenesis, type 2 Rank 1	Atelosteogenesis, type 2 Rank 2	Atelosteogenesis, type 2 Rank 3
Berk-Tabatznik syndrome	Berk-Tabatznik syndrome Rank 1	Berk-Tabatznik syndrome Rank 2	Berk-Tabatznik syndrome Rank 3
Canavan disease, neonatal / infantile	Canavan disease, neonatal / infantile Rank 1	Canavan disease, neonatal / infantile Rank 2	Canavan disease, neonatal / infantile Rank 3
GM1 gangliosidosis, type I (infantile)	GM1 gangliosidosis, type I (infantile) Rank 1	GM1 gangliosidosis, type I (infantile) Rank 2	GM1 gangliosidosis, type I (infantile) Rank 3
Cockayne syndrome	Cockayne syndrome Rank 1	Cockayne syndrome Rank 2	Cockayne syndrome Rank 3
FG syndrome	FG syndrome Rank 1	FG syndrome Rank 2	FG syndrome Rank 3
Fragile X syndrome	Fragile X syndrome Rank 1	Fragile X syndrome Rank 2	Fragile X syndrome Rank 3
GM1 gangliosidosis	GM1 gangliosidosis Rank 1	GM1 gangliosidosis Rank 2	GM1 gangliosidosis Rank 3
HSAS: hydrocephalus with stenosis of aqueduct of Sylvius	HSAS: hydrocephalus with stenosis of aqueduct of Sylvius Rank 1	HSAS: hydrocephalus with stenosis of aqueduct of Sylvius Rank 2	HSAS: hydrocephalus with stenosis of aqueduct of Sylvius Rank 3
Hydrocephalus due to aqueductal stenosis	Hydrocephalus due to aqueductal stenosis Rank 1	Hydrocephalus due to aqueductal stenosis Rank 2	Hydrocephalus due to aqueductal stenosis Rank 3
Hydrocephalus, obstructive, idiopathic	Hydrocephalus, obstructive, idiopathic Rank 1	Hydrocephalus, obstructive, idiopathic Rank 2	Hydrocephalus, obstructive, idiopathic Rank 3
Hypomelanosis of Ito	Hypomelanosis of Ito Rank 1	Hypomelanosis of Ito Rank 2	Hypomelanosis of Ito Rank 3
Hypomyelinating leukodystrophy	Hypomyelinating leukodystrophy Rank 1	Hypomyelinating leukodystrophy Rank 2	Hypomyelinating leukodystrophy Rank 3
Kabuki syndrome	Kabuki syndrome Rank 1	Kabuki syndrome Rank 2	Kabuki syndrome Rank 3
Macrocephaly, benign familial	Macrocephaly, benign familial Rank 1	Macrocephaly, benign familial Rank 2	Macrocephaly, benign familial Rank 3
Marden-Walker syndrome	Marden-Walker syndrome Rank 1	Marden-Walker syndrome Rank 2	Marden-Walker syndrome Rank 3
Megalencephaly-capillary malformation-polymicrogyria syndrome	Megalencephaly-capillary malformation-polymicrogyria syndrome Rank 1	Megalencephaly-capillary malformation-polymicrogyria syndrome Rank 2	Megalencephaly-capillary malformation-polymicrogyria syndrome Rank 3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Rank 1	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Rank 2	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Rank 3
MPS I: Hurler syndrome	MPS I: Hurler syndrome Rank 1	MPS I: Hurler syndrome Rank 2	MPS I: Hurler syndrome Rank 3
MPS II: Hunter syndrome	MPS II: Hunter syndrome Rank 1	MPS II: Hunter syndrome Rank 2	MPS II: Hunter syndrome Rank 3
MPS IV: Morquio syndrome	MPS IV: Morquio syndrome Rank 1	MPS IV: Morquio syndrome Rank 2	MPS IV: Morquio syndrome Rank 3
MPS VI: Maroteaux-Lamy syndrome	MPS VI: Maroteaux-Lamy syndrome Rank 1	MPS VI: Maroteaux-Lamy syndrome Rank 2	MPS VI: Maroteaux-Lamy syndrome Rank 3
MPS VII: Sly syndrome	MPS VII: Sly syndrome Rank 1	MPS VII: Sly syndrome Rank 2	MPS VII: Sly syndrome Rank 3
Mucolipidosis I (sialidosis type II)	Mucolipidosis I (sialidosis type II) Rank 1	Mucolipidosis I (sialidosis type II) Rank 2	Mucolipidosis I (sialidosis type II) Rank 3
Mucolipidosis II	Mucolipidosis II Rank 1	Mucolipidosis II Rank 2	Mucolipidosis II Rank 3
Mucolipidosis III (alpha/beta)	Mucolipidosis III (alpha/beta) Rank 1	Mucolipidosis III (alpha/beta) Rank 2	Mucolipidosis III (alpha/beta) Rank 3
Multiple sulfatase deficiency	Multiple sulfatase deficiency Rank 1	Multiple sulfatase deficiency Rank 2	Multiple sulfatase deficiency Rank 3
NF1: Neurofibromatosis 1	NF1: Neurofibromatosis 1 Rank 1	NF1: Neurofibromatosis 1 Rank 2	NF1: Neurofibromatosis 1 Rank 3
Osteogenesis imperfecta IX	Osteogenesis imperfecta IX Rank 1	Osteogenesis imperfecta IX Rank 2	Osteogenesis imperfecta IX Rank 3
Schimmelpenning-Fuerstein-Mims syndrome	Schimmelpenning-Fuerstein-Mims syndrome Rank 1	Schimmelpenning-Fuerstein-Mims syndrome Rank 2	Schimmelpenning-Fuerstein-Mims syndrome Rank 3
Sialidosis II, infantile	Sialidosis II, infantile Rank 1	Sialidosis II, infantile Rank 2	Sialidosis II, infantile Rank 3
Sjogren-Larsson syndrome	Sjogren-Larsson syndrome Rank 1	Sjogren-Larsson syndrome Rank 2	Sjogren-Larsson syndrome Rank 3
Sotos syndrome	Sotos syndrome Rank 1	Sotos syndrome Rank 2	Sotos syndrome Rank 3
Spastic paraplegia 53	Spastic paraplegia 53 Rank 1	Spastic paraplegia 53 Rank 2	Spastic paraplegia 53 Rank 3

Question Title

* 4. Go to Reports on the SimulConsult black navigation bar. Select the Computable patient summary only). Also try saving to your desktop. Close SimulConsult. Then, click on the link to get back to where you were.

Clinical case 1

Question Title

* 1. Name

Question Title

* 2. Email (use your work email)

Question Title

Question Title

* 4. Go to Reports on the SimulConsult black navigation bar. Select the Computable patient summary only). Also try saving to your desktop. Close SimulConsult. Then, click on the link to get back to where you were.

Question Title

* 5. Comments welcome.