Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study.

Daniel Ebrahimi-FakhariLilian Lisa MannMartin PoryoNorbert GrafRüdiger von KriesBeate HeinrichDarius Ebrahimi-FakhariMarina Flotats-BastardasLudwig GortnerMichael ZemlinSascha Meyer

Published in: Orphanet journal of rare diseases (2018)

This is the first study that assessed prospectively the incidence rate of TSC in children and adolescents using the updated diagnostic criteria of 2012. This prospective surveillance study demonstrates a low age at first diagnosis (median: 6 months), likely due to antenatal detection of cardiac rhabdomyoma. Early diagnosis bears the potential for implementing effective therapies at an earlier stage.

Keyphrases

public health
risk factors
pregnant women
machine learning
atrial fibrillation
risk assessment
electronic health record
big data
data analysis
loop mediated isothermal amplification