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Differential Diagnosis
Genetic disease is an important consideration when evaluating a child with many different neurodevelopmental signs and symptoms. The purpose of this tool is to help you consider genetic factors in a differential diagnosis for the common pediatric presentations in neurology practice.
GeneTests
www.genetests.org/ GeneTests is a free medical genetics information resource. It contains: Laboratory Directory: find labs that perform genetic tests of interest. GeneReviews (http://www.ncbi.nlm.nih.gov/sites/GeneTests/review?db=GeneTests): expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions. GeneReviews articles also include a list of differential diagnosis conditions. GeneReviews Overviews: address the genetic components of broad categories of disease, for example, autism or hearing loss. GeneTests is best used after you have formulated an initial differential diagnosis. You can then search GeneTests or the Genetic Testing Registry (described below) for laboratories to perform genetic testing or learn more about a specific condition on the differential.
SimulConsult
www.simulconsult.com/ SimulConsult provides a simultaneous consult about a patients diagnosis using free decision support software. SimulConsult can help build a differential diagnosis that includes genetic conditions, and suggests other useful findings, including tests. Tips for Using SimulConsult: You will need to register for a free user account. Begin by entering your patients age and gender, and add prominent or unusual features to refine the differential diagnosis list, or, access the software through GeneReviews when you are considering a specific diagnosis. Click on a syndrome on the differential list to link to other resources. When your differential is long, SimulConsult can help match your patients features to the most likely candidates. For tips on using SimulConsult, including demo videos: www.simulconsult.com/demo/index.html
UptoDate
www.uptodate.com/ UptoDate requires a user subscription, and access is available through many hospital and academic networks. It is a decision support system that helps clinicians answer clinical questions quickly and easily at the point of care.
Developmental History On time (3) Gross Motor Fine Motor Speech Review of Systems and Physical Exam (3) if normal Constitutional Eyes ENT/Audiology Cardiovascular Respiratory Gastrointestinal Genitourinary Comments: Musculoskeletal Skin Psychiatric Endocrine Hematology Allergy Immunology Delayed (3) Regression (3)
Labs / Studies Normal (3) EEG EMG BAER MRI CT LP Metabolic Genetic Family History (3) if applicable DD MR/ID Stroke Headache/ Migraines Seizures Consanguinity Other Unremarkable published July 2012 NCHPEG All rights reserved Describe relationship to patient Abnormal (3) If abnormal, explain