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Knowing pre-diagnosis conditions can improve screening, tailor treatment


Novel association toolkit available online

With the ability to more easily find co-occurring conditions, Vanderbilt researchers already have identified some conditions that appear prior to a diagnosis of Autism Spectrum Disorder.

They parsed the data to look at the medical histories of children less than two years old who were later diagnosed with ASD. Convulsions, constipation and strabismus, which is improper eye alignment, were the most significant comorbid conditions. Prior to their diagnosis, children in this group also had more medical visits associated with convulsions, diseases of the esophagus and allergic reactions to food.

Early screening practices could be improved with such information.

In a related effort, researchers investigated disease associations in two groups – those who were less than
five years old and more than five years old at the time of an ASD diagnosis. Children diagnosed later had more conditions like asthma, hearing loss and mood disorders.

Researchers aim to build predictive models of co-occurring condition progression, introduce targeted risk assessments across the lifespan, and move toward more personalized medicine.

The new tool kit, called pyPheWAS, is available online. It was validated with three sample conditions, including ASD.



Posted on Thursday, October 1, 2020 in ,October 2020