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Developing a Tailored Neuropsychological Rehabilitation for Sturge-Weber Syndrome
The goal of this observational study is to learn about the neuropsychological profile of Sturge-Weber Syndrome (SWS) in children and adults with this rare neurocutaneous condition. SWS affects approximately 1 in 50,000 live births and is characterized by brain blood vessel malformations, facial port-wine stains, and abnormal vascularization in the brain, skin, and eyes. Patients are at high risk for epileptic seizures, stroke-like episodes, glaucoma, and motor and cognitive difficulties. The main questions it aims to answer are: * What are the specific cognitive strengths and weaknesses in visuospatial abilities, working memory, and executive functions in individuals with SWS? * What is the detailed neuropsychological profile of patients with SWS who do not have intellectual disability? * Are there different cognitive-behavioral phenotypes between patients with and without the characteristic facial port-wine stain (PWS)? * How do clinical variables such as seizure history and brain involvement patterns relate to specific cognitive deficits? Participants will undergo a comprehensive neuropsychological assessment battery that includes: * Intellectual functioning tests (K-BIT2) to measure verbal and non-verbal intelligence * Executive function evaluation (BRIEF2) assessing behavioral regulation, emotional regulation, and cognitive regulation * Language assessment including receptive vocabulary (PPVT) and grammatical comprehension (TCGB-2) * Visuospatial skills testing (Beery-Buktenica VMI) evaluating visual-motor integration * Working memory assessment (WISC-IV/WAIS-IV digit span and spatial span subtests) * Learning abilities evaluation including reading (Battery for the Assessment of - Developmental Dyslexia and Dysorthography), writing, and mathematical skills (ABCA test) * Additional assessments for attention, verbal memory, and spatial memory as needed The study will recruit SWS patients through collaboration with patient associations and Telethon support. Par
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