1. Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.
- Author
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Day AM, McCulloch CE, Hammill AM, Juhász C, Lo WD, Pinto AL, Miles DK, Fisher BJ, Ball KL, Wilfong AA, Levin AV, Thau AJ, Comi AM, Koenig JI, Lawton MT, Marchuk DA, Moses MA, Freedman SF, and Pevsner J
- Subjects
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Disease Susceptibility, Female, Humans, Infant, Male, Prognosis, Severity of Illness Index, Sex Factors, Young Adult, Epilepsy diagnosis, Epilepsy epidemiology, Epilepsy etiology, Epilepsy surgery, Glaucoma diagnosis, Glaucoma epidemiology, Glaucoma etiology, Glaucoma surgery, Intellectual Disability diagnosis, Intellectual Disability epidemiology, Intellectual Disability etiology, Learning Disabilities diagnosis, Learning Disabilities epidemiology, Learning Disabilities etiology, Neurosurgical Procedures statistics & numerical data, Ophthalmologic Surgical Procedures statistics & numerical data, Port-Wine Stain diagnosis, Port-Wine Stain epidemiology, Port-Wine Stain etiology, Stroke diagnosis, Stroke epidemiology, Stroke etiology, Sturge-Weber Syndrome complications, Sturge-Weber Syndrome diagnosis, Sturge-Weber Syndrome epidemiology, Sturge-Weber Syndrome surgery
- Abstract
Background: Sturge-Weber syndrome (SWS) is caused by a somatic mutation in GNAQ leading to capillary venous malformations in the brain presenting with various neurological, ophthalmic, and cognitive symptoms of variable severity. This clinical variability makes accurate prognosis difficult. We hypothesized that the greater extent of physical factors (extent of skin, eye, and brain involvement), presence of possible genetic factors (gender and family history), and age of seizure onset may be associated with greater symptom severity and need for surgery in patients with SWS., Methods: The questionnaire was collected from 277 participants (age: two months to 66 years) with SWS brain involvement at seven US sites., Results: Bilateral brain involvement was associated with both learning disorder and intellectual disability, whereas port-wine birthmark extent was associated with epilepsy and an increased likelihood of glaucoma surgery. Subjects with family history of vascular birthmarks were also more likely to report symptomatic strokes, and family history of seizures was associated with earlier seizure onset. Learning disorder, intellectual disability, strokelike episodes, symptomatic stroke, hemiparesis, visual field deficit, and brain surgery were all significantly associated with earlier onset of seizures., Conclusion: The extent of brain and skin involvement in SWS, as well as the age of seizure onset, affect prognosis. Other genetic factors, particularly variants involved in vascular development and epilepsy, may also contribute to neurological prognosis, and further study is needed., (Copyright © 2018. Published by Elsevier Inc.)
- Published
- 2019
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