TY - JOUR
T1 - A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome
AU - De la Torre, Alejandro J.
AU - Luat, Aimee F.
AU - Juhász, Csaba
AU - Ho, Mai Lan
AU - Argersinger, Davis P.
AU - Cavuoto, Kara M.
AU - Enriquez-Algeciras, Mabel
AU - Tikkanen, Stephanie
AU - North, Paula
AU - Burkhart, Craig N.
AU - Chugani, Harry T.
AU - Ball, Karen L.
AU - Pinto, Anna Lecticia
AU - Loeb, Jeffrey A.
N1 - Funding Information:
The authors greatly acknowledge the participation and important suggestions from the Patient Engagement Network of the Sturge-Weber Foundation. Without them, and all the patients with Sturge-Weber syndrome, this work would not have been possible. The authors would also like to acknowledge the support from Patient-Centered Outcomes Research Institute (PCORI) and National Institutes of Health grants (NS041922 for C.J.) and the Brain Vascular Malformation Consortium: Predictor's of Clinical Course (U54NS065705 Pilot project for J.A.L.).
Funding Information:
The authors greatly acknowledge the participation and important suggestions from the Patient Engagement Network of the Sturge-Weber Foundation. Without them, and all the patients with Sturge-Weber syndrome, this work would not have been possible. The authors would also like to acknowledge the support from Patient-Centered Outcomes Research Institute (PCORI) and National Institutes of Health grants ( NS041922 for C.J.) and the Brain Vascular Malformation Consortium: Predictor's of Clinical Course ( U54NS065705 Pilot project for J.A.L.).
Publisher Copyright:
© 2018 Elsevier Inc.
PY - 2018/7
Y1 - 2018/7
N2 - Background: Sturge-Weber syndrome is a neurocutaneous disorder associated with port-wine birthmark, leptomeningeal capillary malformations, and glaucoma. It is associated with an unpredictable clinical course. Because of its rarity and complexity, many physicians are unaware of the disease and its complications. A major focus moving ahead will be to turn knowledge gaps and unmet needs into new research directions. Methods: On October 1-3, 2017, the Sturge-Weber Foundation assembled clinicians from the Clinical Care Network with patients from the Patient Engagement Network of the Sturge-Weber Foundation to identify our current state of knowledge, knowledge gaps, and unmet needs. Results: One clear unmet need is a need for consensus guidelines on care and surveillance. It was strongly recommended that patients be followed by multidisciplinary clinical teams with life-long follow-up for children and adults to monitor disease progression in the skin, eye, and brain. Standardized neuroimaging modalities at specified time points are needed together with a stronger clinicopathologic understanding. Uniform tissue banking and clinical data acquisition strategies are needed with cross-center, longitudinal studies that will set the stage for new clinical trials. A better understanding of the pathogenic roles of cerebral calcifications and stroke-like symptoms is a clear unmet need with potentially devastating consequences. Conclusions: Biomarkers capable of predicting disease progression will be needed to advance new therapeutic strategies. Importantly, how to deal with the emotional and psychological effects of Sturge-Weber syndrome and its impact on quality of life is a clear unmet need.
AB - Background: Sturge-Weber syndrome is a neurocutaneous disorder associated with port-wine birthmark, leptomeningeal capillary malformations, and glaucoma. It is associated with an unpredictable clinical course. Because of its rarity and complexity, many physicians are unaware of the disease and its complications. A major focus moving ahead will be to turn knowledge gaps and unmet needs into new research directions. Methods: On October 1-3, 2017, the Sturge-Weber Foundation assembled clinicians from the Clinical Care Network with patients from the Patient Engagement Network of the Sturge-Weber Foundation to identify our current state of knowledge, knowledge gaps, and unmet needs. Results: One clear unmet need is a need for consensus guidelines on care and surveillance. It was strongly recommended that patients be followed by multidisciplinary clinical teams with life-long follow-up for children and adults to monitor disease progression in the skin, eye, and brain. Standardized neuroimaging modalities at specified time points are needed together with a stronger clinicopathologic understanding. Uniform tissue banking and clinical data acquisition strategies are needed with cross-center, longitudinal studies that will set the stage for new clinical trials. A better understanding of the pathogenic roles of cerebral calcifications and stroke-like symptoms is a clear unmet need with potentially devastating consequences. Conclusions: Biomarkers capable of predicting disease progression will be needed to advance new therapeutic strategies. Importantly, how to deal with the emotional and psychological effects of Sturge-Weber syndrome and its impact on quality of life is a clear unmet need.
KW - Consensus statement
KW - Imaging
KW - Sturge-Weber syndrome
KW - Treatment
UR - http://www.scopus.com/inward/record.url?scp=85047307943&partnerID=8YFLogxK
U2 - 10.1016/j.pediatrneurol.2018.04.005
DO - 10.1016/j.pediatrneurol.2018.04.005
M3 - Review article
C2 - 29803545
AN - SCOPUS:85047307943
SN - 0887-8994
VL - 84
SP - 11
EP - 20
JO - Pediatric Neurology
JF - Pediatric Neurology
ER -