Biomarkers in Sturge-Weber syndrome. MRI and EEG biomarkers have offered probably the most strong and clinically related biomarkers. Urine angiogenic biomarkers provide promising information to be used as inexpensive and non-invasive biomarkers; nonetheless, extra analysis and replication of previous analysis is required earlier than it may be broadly adopted and utilized clinically. Credit score: Journal of Neurodevelopmental Issues (2025). DOI: 10.1186/s11689-025-09640-6
A newly printed overview from the Kennedy Krieger Institute highlights main progress in creating biomarkers to enhance the analysis and remedy of Sturge-Weber syndrome (SWS).
SWS is a uncommon neurological dysfunction that may result in seizures, stroke-like episodes, developmental delays, and lifelong incapacity. Printed in Journal of Neurodevelopmental Issues, the research attracts on 25 years of analysis to discover how MRI, EEG, and even urine and blood assessments may assist detect Sturge-Weber syndrome early. These instruments might determine which infants with port-wine birthmarks are in danger earlier than signs ever seem.
Dr. Anne Comi, senior creator of the research and Director of the Hunter Nelson Sturge-Weber Middle at Kennedy Krieger, says these biomarkers might help monitor illness development, predict outcomes, and information individualized remedy plans.
“We’re now at a point where we can begin predicting who is most at risk, even before the first seizure,” mentioned Dr. Comi. “This opens the door to starting treatment earlier. It could change the entire trajectory of a child’s development.”
Sturge-Weber syndrome is brought on by a mutation that disrupts blood vessel improvement within the mind, pores and skin, and eyes. Most kids with SWS expertise seizures within the first yr of life, usually adopted by strokes, cognitive delays, and motor impairments.
Key takeaways from the research embody:
MRI and EEG scans can detect early mind modifications and predict seizure danger in infants.
A specialised rating known as a “laterality score” identifies which kids are almost definitely to profit from remedy.
Urine and blood-based markers of irregular blood vessel progress are rising as noninvasive instruments.
AI instruments are being developed to mix imaging and medical information to enhance analysis and danger prediction in newborns.
“SWS is a rare and devastating condition, but decades of dedicated research are helping us better understand how to care for these children,” mentioned Dr. Comi. “Biomarkers are starting to take some of the guesswork out of diagnosis and treatment and bring hope to families.”
The mix of all of this information will enhance analysis for promising new remedies like sirolimus and cannabidiol. Kennedy Krieger plans to launch medical trials on these therapies quickly.
The paper requires expanded multi-center analysis, continued improvement of noninvasive instruments, and better integration of AI to reinforce biomarker precision.
Extra info:
Siddharth S. Gupta et al, Biomarker improvement in Sturge-Weber syndrome, Journal of Neurodevelopmental Issues (2025). DOI: 10.1186/s11689-025-09640-6
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Biomarker instruments improved for kids with Sturge-Weber syndrome (2025, August 26)
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