Sturge-Weber Syndrome study on dbGaP (40 participants)

phs001281 — Establish Reliability for qEEG, Transcranial Doppler and OCT in SWS

Sturge-Weber syndrome (SWS) is a rare, congenital syndrome with vascular malformations of the brain, skin and eye. The underlying cause of SWS is unknown and the extent of involvement varies greatly from patient to patient. Those with brain involvement present with seizures, stroke-like episodes and neurologic deficits, usually in infancy. Those with eye involvement frequently develop vision threatening glaucoma and retinal injury. Treatment has been largely symptomatic and hampered by delayed diagnosis and the rarity of the condition. The purpose of this study is to determine the reliability of non-invasive measures to be developed as biomarkers for SWS and to determine inter-rater reliability where appropriate. This includes measuring reliability for: <ul> <li>Power asymmetry on Quantitative Electroencephalogram</li> <li>Asymmetry of Transcranial Doppler velocity and pulsatility</li> <li>Behavioral outcome measures (PEDI, Erhardt, Modified Rankin Scale)</li> <li>Optical Coherence Tomography</li> </ul> Approximately 40 subjects will participate in this observational, cross-sectional study. The first version study release included data of the first n=25 subjects.